Not currently registered for phenotyping at IMPC

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

Gene Summary

growth factor receptor bound protein 2-associated protein 1

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 Gab1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gab1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Recessive 26

The table below shows human diseases predicted to be associated to Gab1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Geographic And Fissured Tongue
Furrowed tongue, Geographic tongue OMIM:137400
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Tongue, Pigmented Fungiform Papillae Of
Abnormality of the tongue OMIM:275250
Melkersson-Rosenthal Syndrome
Furrowed tongue, Facial palsy OMIM:155900
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Cleft palate OMIM:119550
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Sprengel Deformity
Cleft palate, Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Tortico... ORPHA:3181
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Pedal edema, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgit... ORPHA:422
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
Peripartum Cardiomyopathy
Toxemia of pregnancy, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal car... ORPHA:563
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Pierre Robin Syndrome
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Placental Insufficiency
Maternal hypertension, Abnormal heart morphology, Preeclampsia, Eclampsia, Intrauterine growth re... ORPHA:439167
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Diffuse telangiectasia, Prominent superficial blood vessels, Erythema,... ORPHA:280779
Purpura Simplex
Purpura, Epistaxis, Menorrhagia, Ptosis, Bruising susceptibility OMIM:179000
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Subcutaneous hemorrhage, Joint hemorrhage, Poor wound healing, Epistaxis, Ec... ORPHA:331
Factor Xiii, B Subunit, Deficiency Of
Prolonged bleeding after surgery, Abnormal bleeding, Bruising susceptibility, Abnormal umbilical ... OMIM:613235
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Epistaxis,... OMIM:609821
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse, Petechiae, Bruising susceptibility, Striae distensae OMIM:225310
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:311895
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Velopharyngeal insufficiency OMIM:617732
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hirsutism, Epistaxis, Petechiae, Bruising susceptibility OMIM:314050
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Abnormality of the dentition, Cleft palate ORPHA:3104
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Evans Syndrome
Syncope, Epistaxis, Jaundice, Petechiae, Bruising susceptibility, Pallor ORPHA:1959
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Lower l... ORPHA:496689
Barber-Say Syndrome
Ectropion, Redundant skin, Breast aplasia, Hypoplastic nipples, Sparse or absent eyelashes, Aplas... ORPHA:1231
Adducted Thumbs Syndrome
Arthrogryposis multiplex congenita, High, narrow palate, Cleft palate, High palate, Myopathy, Vel... OMIM:201550
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Congenital Sialidosis Type 2
Abnormal heart morphology, Umbilical hernia, Generalized hypertrichosis, Petechiae, Edema, Ascite... ORPHA:93400
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Absent eyelashes, Patent foramen ovale, Ventr... OMIM:256520
Bartsocas-Papas Syndrome 1
Axillary pterygium, Absent eyelashes, Patent foramen ovale, Blepharophimosis, Ectropion, Cicatric... OMIM:263650
Bifid Uvula
Bifid uvula, Submucous cleft soft palate, Cleft lip ORPHA:99771
Arthrogryposis, Distal, Type 1C
Pursed lips, Camptodactyly of finger, Thin vermilion border, Narrow mouth, Camptodactyly of toe, ... OMIM:619110
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Thrombocytopenia 5
Petechiae, Bruising susceptibility, Epistaxis OMIM:616216
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Purpura, Petechiae, Keratoconjunctivitis sicca, Cutis marmorata, Vas... ORPHA:91138
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Purpura, Hyperkeratosis, Desquamation of skin soon after birth, Decreased fetal m... OMIM:608013
Drug-Induced Lupus Erythematosus
Petechiae, Pericardial effusion, Pericarditis, Prolonged QTc interval ORPHA:231111
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Petechiae, Cerebral hemorrhage, Ascites, Bru... ORPHA:99828
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate OMIM:258320
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Bruising susceptibility, Epistaxis, Ecchymosis OMIM:614009
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Right ventricular dilatation OMIM:253700
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Petechiae, Br... OMIM:187900
Sea-Blue Histiocytosis
Abnormal bleeding, Petechiae, Edema, Blepharitis ORPHA:158029
Oculoauriculofrontonasal Syndrome
Upper eyelid coloboma, Limbal dermoid, Ventricular septal defect ORPHA:398156
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Prolidase Deficiency
Diffuse telangiectasia, Prolonged neonatal jaundice, Petechiae, Facial hirsutism, Ptosis, Low pos... OMIM:170100
Burn-Mckeown Syndrome
Atrial septal defect, Blepharophimosis, Ventricular septal defect, Lower eyelid coloboma, Short p... OMIM:608572
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Severe intrauterine growth retardation, Ptosis, Intrauterine growth retard... ORPHA:73272
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Treacher Collins Syndrome 4
Downslanted palpebral fissures, Lower eyelid coloboma, Preauricular hair displacement OMIM:618939
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2926
Snakebite Envenomation
Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, ... ORPHA:449285
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapular winging, Shoulder girdle muscle weakness, Facial palsy, ... OMIM:158900
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura OMIM:612336
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Upper eyelid coloboma, Lower eyelid coloboma, Ectopic lacrimal punctum, Absent lacr... OMIM:167730
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Jaundice, Petechiae, Gingival bleeding ORPHA:99827
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Oral cavity bleeding, Epistaxis, Diffuse alveolar hemorrhage, Petechi... ORPHA:520
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism, Purpura OMIM:612304
Ablepharon Macrostomia Syndrome
Sparse hair, Absent eyelashes, Breast hypoplasia, Redundant skin, Absent eyebrow, Umbilical herni... ORPHA:920
Ablepharon-Macrostomia Syndrome
Absent eyelashes, Absent eyebrow, Cryptophthalmos, Ablepharon, Dry skin OMIM:200110
Cutaneous Small Vessel Vasculitis
Purpura, Erythema, Cutis marmorata, Vasculitis, Urticaria ORPHA:889
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Prolonged bleeding after dental extraction, Epistaxis, Petechiae, Menorrhagia, Gingival bleeding,... OMIM:153670
Tufted Angioma
Petechiae, Hypertrichosis, Purpura ORPHA:1063
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Petechiae, Bruising susceptibility, Epistaxis OMIM:300367
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Mandibulofacial Dysostosis With Mental Retardation
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248400
Prothrombin Deficiency, Congenital
Ecchymosis, Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Me... OMIM:613679
Restrictive Dermopathy
Polyhydramnios, Short umbilical cord, Sparse eyebrow, Scaling skin, Dextrocardia, Sparse or absen... ORPHA:1662
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Aicardi-Goutieres Syndrome 1
Acrocyanosis, Purpura, Prolonged neonatal jaundice, Petechiae, Cardiomyopathy OMIM:225750
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Torticollis, Arthrogryposis multiplex congenita, Natal tooth, Cleft palate OMIM:217150
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Helsmoortel-Van Der Aa Syndrome
Abnormal heart morphology, High anterior hairline, Narrow palpebral fissure, Ptosis, Eyelid colob... OMIM:615873
Treacher Collins Syndrome 3
Downslanted palpebral fissures, Lower eyelid coloboma OMIM:248390
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Primary Myelofibrosis
Abnormal bleeding, Purpura, Petechiae, Portal hypertension, Pallor, Ecchymosis ORPHA:824
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Sparse and thin eyebrow, Alopecia, Bicuspid aortic valve, Sparse eyelashes OMIM:616367
Burning Mouth Syndrome
Tongue pain, Parageusia, Xerostomia, Abnormality of the gingiva, Abnormality of taste sensation, ... ORPHA:353253
Pseudo-Torch Syndrome 2
Petechiae, Cerebral hemorrhage, Bradycardia, Ascites OMIM:617397
Oculotrichoanal Syndrome
Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Cryptophthalmos ORPHA:2717
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:253310
Richieri-Costa/Guion-Almeida Syndrome
Palmoplantar cutis laxa, Ptosis, Spina bifida occulta, Eyelid coloboma, Downslanted palpebral fis... OMIM:268850
Oculocerebrocutaneous Syndrome
Orbital cyst, Alopecia, Eyelid coloboma OMIM:164180
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Petechiae, Epistaxis OMIM:612840
Epidermolysis Bullosa Simplex, Ogna Type
Skin fragility with non-scarring blistering, Bruising susceptibility OMIM:131950
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Poirier-Bienvenu Neurodevelopmental Syndrome
Protruding tongue, Downturned corners of mouth, Smooth philtrum, Open mouth OMIM:618732
Sepsis In Premature Infants
Abnormal bleeding, Prenatal maternal abnormality, Purpura, Hypotension, Bradycardia, Jaundice, Pe... ORPHA:90051
Acquired Purpura Fulminans
Acrocyanosis, Internal hemorrhage, Intracranial hemorrhage, Macular purpura, Pyoderma gangrenosum... ORPHA:49566
Complement Component 4A Deficiency
Cutaneous photosensitivity, Vasculitis, Purpura OMIM:614380
X-Linked Intellectual Disability, Seemanova Type
High palate, Hypoplasia of the musculature, Skeletal muscle atrophy ORPHA:85323
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Joint hemorrhage, Epistaxis, Bruising susceptibility, Ecchymosis OMIM:277450
Meningococcal Meningitis
Shock, Petechiae, Hypotension, Purpura ORPHA:33475
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Griscelli Syndrome Type 2
Petechiae, Jaundice, Hypopigmentation of hair, Premature graying of hair ORPHA:79477
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae OMIM:187800
Mucopolysaccharidosis, Type Ix
Bifid uvula, Submucous cleft hard palate OMIM:601492
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Intrinsic hand muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, U... ORPHA:90103
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Subcutaneous lipoma, Ventricular septal defect, Alopecia, Eyelid coloboma, ... OMIM:613001
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Ankyloblepharon, Cryptophthalmos OMIM:123570
Sprengel Deformity
Shoulder muscle hypoplasia, Neck muscle hypoplasia OMIM:184400
Wiskott-Aldrich Syndrome
Arrhythmia, Prolonged bleeding time, Internal hemorrhage, Purpura, Intracranial hemorrhage, Hemat... ORPHA:906
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema, Orthostatic hypotension, Syncope OMIM:143850
Spastic Paraplegia 81, Autosomal Recessive
Bifid uvula, Cleft palate OMIM:618768
Factors Viii, Ix And Xi, Combined Deficiency Of
Joint hemorrhage, Ecchymosis, Bruising susceptibility OMIM:134520
Orofaciodigital Syndrome V
Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula, Median cleft lip OMIM:174300
Hemochromatosis, Type 3
Cardiomyopathy, Purpura OMIM:604250
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Glossoptosis, Mandibular... OMIM:614669
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae OMIM:602473
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, High palate, Centrally nucleated skeletal muscle fibers, Type 1 m... ORPHA:169186
Anophthalmia Plus Syndrome
Spina bifida, Blepharophimosis, Eyelid coloboma ORPHA:1104
Ehlers-Danlos Syndrome, Classic Type, 2
Fragile skin, Epicanthus, Bruising susceptibility OMIM:130010
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Ventricular septal defect, Abnormal heart morphology, Large placenta, Umbilical h... ORPHA:254534
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Subcutaneous hemorrhage, Skin ulcer, Purpura ORPHA:743
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Petechiae, Urticaria, Gastrointestinal hemorrhage OMIM:603909
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Jaundice, Petechiae, Bruising susceptibility, Ecchymosis ORPHA:540
Hartnup Disorder
Glossitis OMIM:234500
Frontofacionasal Dysplasia
Blepharophimosis, Upper eyelid coloboma, Ptosis, Telecanthus, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1791
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Fragile skin, Bruising susceptibility, Umbilical hernia OMIM:617174
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Alopecia totalis, Sparse or absent eyelashes,... ORPHA:1234
Childhood Apraxia Of Speech
High, narrow palate, Drooling, Submucous cleft hard palate ORPHA:209908
Rift Valley Fever
Gastrointestinal hemorrhage, Purpura, Chemosis, Jaundice, Cardiac arrest, Bruising susceptibility ORPHA:319251
Iga Nephropathy, Susceptibility To, 1
Hypertension, Purpura OMIM:161950
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Protruding tongue, Macroglossia OMIM:227250
Fraser Syndrome 3
Hydrops fetalis, Cryptophthalmos OMIM:617667
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Boutonneuse Fever
Vasculitis, Petechiae ORPHA:83313
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Accessory oral frenulum, Abnormality of the philtrum, Agenesis of canine, Agan... ORPHA:2919
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Umbilical hernia, Thin upper lip ve... OMIM:616331
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Prolonged bleeding after surgery, Persistent bleeding after trauma, Myocardial fibrosis, Joint he... ORPHA:465
Frontonasal Dysplasia 3
Upper eyelid coloboma, Absent eyebrow, Sparse eyelashes OMIM:613456
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Hypertrichosis-Acromegaloid Facial Appearance Syndrome
Everted lower lip vermilion, Thick vermilion border, Furrowed tongue, Gingival overgrowth, Oral s... ORPHA:966
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Bifid uvula, Cleft palate ORPHA:506353
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft soft palate, Bifid uvula, Cleft palate ORPHA:2736
Fraser Syndrome 1
Absent eyelashes, Lacrimal duct aplasia, Abnormal heart morphology, Upper eyelid coloboma, Absent... OMIM:219000
Catel-Manzke Syndrome
Camptodactyly of finger, Glossoptosis, Oral synechia, Cleft palate ORPHA:1388
Eosinophilic Granulomatosis With Polyangiitis
Acrocyanosis, Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary he... ORPHA:183
Roch-Leri Mesosomatous Lipomatosis
Purpura ORPHA:529
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Ectropion of lower eyelids, Eyelid coloboma ORPHA:246
Osteopetrosis, Autosomal Recessive 4
Petechiae OMIM:611490
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Telecanthus, Abnormal hair morphology, Eyelid coloboma OMIM:607597
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura ORPHA:745
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Acrofrontofacionasal Dysostosis
Eyelid coloboma, Ptosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Wide mouth, Cholestasis, Hepatic fibrosis, Hepatomegaly, Bifid uvula, High palate, ... OMIM:266920
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Bifid uvula, High palate, Median cleft lip OMIM:155145
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Purpura OMIM:605432
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage OMIM:262800
Restrictive Dermopathy, Lethal
Polyhydramnios, Atrial septal defect, Short umbilical cord, Absent eyelashes, Blepharophimosis, S... OMIM:275210
Pseudo-Torch Syndrome 1
Jaundice, Petechiae OMIM:251290
Coffin-Siris Syndrome 11
Downturned corners of mouth, Wide mouth, Esophageal atresia, Bifid uvula, High palate, Cleft soft... OMIM:618779
Complement Component 2 Deficiency
Purpura OMIM:217000
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Abnormal eyelid morphology, Upper eyelid coloboma, Coarse hair, Umbilical ... ORPHA:2095
Satb2-Associated Syndrome Due To A Pathogenic Variant
Long philtrum, Drooling, Smooth philtrum, Abnormality of the dentition, Thin upper lip vermilion,... ORPHA:576283
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Facial erythema, Purpura, Hirsutism, Hypertension, Edema, Striae distensae, B... OMIM:219090
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Bruising susceptibility OMIM:614072
Immunodeficiency 81
Petechiae OMIM:619374
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse, Redundant skin, Bruising susceptibility, Umbilical hernia, Thin eyebrow, L... OMIM:618000
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Camptodactyly, Microglossia, Knee flexion contracture, Shoulder flex... OMIM:277720
Thrombocytopenia 2
Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility OMIM:614200
Myopathy, Myofibrillar, 7
Type 2 muscle fiber predominance, Flexion contracture, Tongue atrophy, Increased Z-disc width, Ac... OMIM:617114
Mixed Connective Tissue Disease
Prolonged bleeding time, Pericarditis, Gastrointestinal hemorrhage, Purpura, Joint swelling, Xero... ORPHA:809
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Short umbilical cord, Blepharophimosis, Stillbirth, Fetal akinesia sequence, Shor... OMIM:208150
Jacobsen Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal eyelash morphology, Epicanthus, Nasolac... OMIM:147791
Trichohepatoenteric Syndrome 1
Polyhydramnios, Sparse hair, Aortic regurgitation, Ventricular septal defect, Downslanted palpebr... OMIM:222470
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Subconjunctival hemorrhage, Pericardial effusion, Pleural... ORPHA:464329
Manitoba Oculotrichoanal Syndrome
Nasolacrimal duct obstruction, Abnormal hair morphology, Eyelid coloboma OMIM:248450
Zimmermann-Laband Syndrome 3
Flexion contracture, Gingival overgrowth, Bifid uvula, High palate, Thick lower lip vermilion OMIM:618658
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Subcutaneous hemorrhage ORPHA:1980
Livedoid Vasculopathy
Ischemic stroke, Poor wound healing, Pedal edema, Hypertension, Telangiectasia of the skin, Macul... ORPHA:542643
Mirage Syndrome
Intrauterine growth retardation, Petechiae, Intracranial hemorrhage OMIM:617053
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Stickler Syndrome, Type Ii
Bifid uvula, High, narrow palate, Pierre-Robin sequence, Cleft palate OMIM:604841
Primary Release Disorder Of Platelets
Spontaneous, recurrent epistaxis, Abnormal bleeding, Menorrhagia, Bruising susceptibility OMIM:176630
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Facial palsy ORPHA:2743
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Cutis marmorata, Eyelid coloboma OMIM:157980
Thrombocytopenia 1
Petechiae, Joint hemorrhage, Epistaxis, Bruising susceptibility OMIM:313900
Toriello-Lacassie-Droste Syndrome
Polyhydramnios, Blepharophimosis, Epicanthus, Abnormal conjunctiva morphology, Short palpebral fi... ORPHA:3339
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Internal hemorrhage, Right ventricular hypertrophy... ORPHA:335
Temple Syndrome
Short philtrum, Flexion contracture, Cleft palate, Bifid uvula, High palate OMIM:616222
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Cardiomegaly, Ecchymosis, Abnormal heart morphology OMIM:114620
Jacobsen Syndrome
Eyelid coloboma, Spina bifida, Ectropion, Ventricular septal defect, Epicanthus, Aortic valve ste... ORPHA:2308
Limb-Mammary Syndrome
Camptodactyly, Hypodontia, Joint contracture of the hand, Cleft palate, Bifid uvula OMIM:603543
Oculoectodermal Syndrome
Atrial septal defect, Lymphedema, Epicanthus, Eyelid coloboma, Transient ischemic attack, Supernu... OMIM:600268
Walker-Warburg Syndrome
Pachygyria, Muscular dystrophy, Abnormality of neuronal migration, Aplasia/Hypoplasia involving t... ORPHA:899
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Glossoptosis, Cleft palate ORPHA:166100
Autoerythrocyte Sensitization Syndrome
Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hemorrhage, Oral cavity bleeding, Epi... ORPHA:324636
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Atrial septal defect, Umbilical hernia, Fragile skin, Downslanted palpebral fissures, Bruising su... OMIM:601776
Momo Syndrome
Downslanted palpebral fissures, Epicanthus, Cutis marmorata, Eyelid coloboma ORPHA:2563
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Anti-Glomerular Basement Membrane Disease
Vasculitis, Purpura ORPHA:375
Passovoy Factor Defect
Abnormal bleeding, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:168830
Fraser Syndrome 2
Cryptophthalmos OMIM:617666
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy OMIM:141300
Nager Syndrome
Lower eyelid coloboma, Ptosis, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow, Downsla... ORPHA:245
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Dermatochalasis, Joint swelling, Abnormal heart valve physiology, Fr... ORPHA:287
Bleeding Disorder In Hemophilia A Carriers Without Fviii Deficiency
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Post-partum hemorrhage, Pr... ORPHA:177926
Thrombocytopenia 3
Petechiae, Epistaxis OMIM:273900
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis OMIM:614876
Oculocerebrocutaneous Syndrome
Ptosis, Alopecia, Eyelid coloboma ORPHA:1647
Ankyloglossia With Or Without Tooth Anomalies
Ankyloglossia, Supernumerary tooth OMIM:106280
Neu-Laxova Syndrome
Arthrogryposis multiplex congenita, Pachygyria, Abnormality of the philtrum, Abnormality of the m... ORPHA:2671
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle atrophy, Amyoplasia, Progressive distal muscular atrophy, Scapu... OMIM:181405
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis, Bruising susceptibility, Arterial rupture ORPHA:300179
Noonan Syndrome 4
Polyhydramnios, Abnormal bleeding, Atrial septal defect, Sparse eyebrow, Ventricular septal defec... OMIM:610733
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Premature rupture of membranes, Redundant skin, Gingival hyperkeratosis, Hirsutism, Epicanthus, U... OMIM:225410
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Prolonged bleeding time, Join... OMIM:193400
Abnormal bleeding, Joint swelling, Pedal edema, Epistaxis, Raynaud phenomenon, Erythema, Facial e... ORPHA:324625
Treacher Collins Syndrome 1
Lacrimal duct stenosis, Abnormal heart morphology, Upper eyelid coloboma, Lower eyelid coloboma, ... OMIM:154500
Arthrogryposis, Distal, Type 3
Camptodactyly of finger, Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly... OMIM:114300
Charcot-Marie-Tooth Disease, Type 4C
Distal amyotrophy, Facial palsy, Upper limb muscle weakness, Tongue fasciculations, Tongue atrophy OMIM:601596
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Gastrointestinal hemorrhage, Purpura, Erythema, Vasculitis, Urticaria ORPHA:343
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Supernumerary tooth, Bifid uvula, High palate, Thick lower lip... OMIM:617412
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Lower eyelid coloboma, Premature birth, Sparse lower eyelashes, Downsl... OMIM:154400
Kleefstra Syndrome 2
Bifid uvula, Everted lower lip vermilion OMIM:617768
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Immunodeficiency, Common Variable, 6
Purpura OMIM:613496
Dominant Beta-Thalassemia
Cirrhosis, Growth delay, Hepatocellular carcinoma, Hepatic fibrosis, Chronic hepatitis, Jaundice,... ORPHA:231226
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
3Mc Syndrome 2
Diastasis recti, Downturned corners of mouth, Torticollis, Hypoplasia of the musculature, Partial... OMIM:265050
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Urticaria, Pleural effusion, Pedal edema, Epistaxis, Conges... ORPHA:33226
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Atrioventricula... OMIM:115197
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Plantar flexion contractures, High, narrow palate, Torticollis, Bifid ... ORPHA:2872
Cantu Syndrome
Lymphedema, Congenital, generalized hypertrichosis, Pericardial effusion, Epicanthus, Long eyelas... OMIM:239850
Idiopathic Aplastic Anemia
Gingival bleeding, Retinal hemorrhage, Epistaxis, Ecchymosis ORPHA:88
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, Anterior open-bite maloc... OMIM:602483
Hypomandibular Faciocranial Dysostosis
Pursed lips, Aglossia OMIM:241310
Amish Lethal Microcephaly
Hepatomegaly, Cleft soft palate, Spina bifida ORPHA:99742
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Facial hypotonia, Smooth philtrum OMIM:614526
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Joint hemorrhage, Gastrointestinal hemorrhage, Aortic regurgita... ORPHA:99147
Bacterial Toxic-Shock Syndrome
Hypotension, Scaling skin, Capillary leak, Edema, Tachycardia, Shock, Myocarditis, Ecchymosis ORPHA:36234
Mycophenolate Mofetil Embryopathy
Eyelid coloboma, Hydrops fetalis, Ventricular septal defect ORPHA:268249
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Narrow mouth, Thenar muscle atrophy, Hypoplasia of the musculature, Hi... ORPHA:2463
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Small vessel vasculitis, Purpura, Hematemesis, Large vessel vasculitis, ... OMIM:301000
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Pierre-Robin sequence, Hepatic steatosis, Intrahepatic cholestasis... OMIM:614921
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Spontaneous hematomas, Epistaxis OMIM:616176
Pai Syndrome
Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Cleft palate ORPHA:1993
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate OMIM:619239
Native American Myopathy
Arthrogryposis multiplex congenita, Downturned corners of mouth, Camptodactyly, Submucous cleft s... ORPHA:168572
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Ischemic stroke, Blepharophimosis, Aortic regurgitation, Cutis laxa, Umb... OMIM:208050
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Abnormal heart morphology, Lymphedema,... ORPHA:1041
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
Classical-Like Ehlers-Danlos Syndrome Type 1
Arrhythmia, Gastrointestinal hemorrhage, Spina bifida occulta, Mitral valve prolapse, Bruising su... ORPHA:230839
Carey-Fineman-Ziter Syndrome
Pierre-Robin sequence, Flexion contracture, Pectoralis hypoplasia, Facial palsy, Microglossia, Gl... OMIM:254940
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia ORPHA:3201
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Large placenta, Epicanthus, Narrow palpebral fissure, Umbilical hernia, Redundant... ORPHA:254528
Beta-Thalassemia Major
Cirrhosis, Growth delay, Hepatocellular carcinoma, Hepatic fibrosis, Jaundice, Delayed puberty, H... ORPHA:231214
Fraser Syndrome
Lacrimal duct aplasia, Umbilical hernia, Malformed lacrimal duct, Abnormal hair pattern, Myelomen... ORPHA:2052
Hemifacial Microsomia
Branchial anomaly, Ventricular septal defect, Blepharophimosis, Upper eyelid coloboma, Tetralogy ... OMIM:164210
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Widow's peak, Epicanthus, Ptosis, Eyelid coloboma, Tetralogy of Fallot, Sparse ey... ORPHA:306542
Aicardi-Goutières Syndrome
Acrocyanosis, Prolonged neonatal jaundice, Dry skin, Ptosis, Cardiomegaly, Cutis marmorata, Eyeli... ORPHA:51
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Mitral atresia, Eyelid coloboma, Abnormal cardiac septum morphology, Teleca... ORPHA:140952
Noonan Syndrome 13
Highly arched eyebrow, Atrial septal defect, Almond-shaped palpebral fissure, Lymphedema, Epicant... OMIM:619087
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Delayed eruption of teeth, Thenar muscle atrophy, Hypodontia, Joint cont... OMIM:612350
Congenital Fiber-Type Disproportion Myopathy
Type 1 muscle fiber atrophy, Flexion contracture of finger, Dental crowding, High palate, Flexion... ORPHA:2020
Marinesco-Sjögren Syndrome
Muscular dystrophy, Severe short stature, Aplasia/Hypoplasia involving the skeletal musculature, ... ORPHA:559
Pontocerebellar Hypoplasia, Type 1B
Tongue fasciculations, Flexion contracture, Skeletal muscle atrophy, Tongue atrophy OMIM:614678
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Hepatomegaly, Anterior open-bite mal... ORPHA:3473
Carey-Fineman-Ziter Syndrome
Long philtrum, Thin vermilion border, Pierre-Robin sequence, Aplasia of the pectoralis major musc... ORPHA:1358
Branchiogenic-Deafness Syndrome
Branchial fistula, Submucous cleft hard palate, Branchial cyst OMIM:609166
Oculofaciocardiodental Syndrome
Long philtrum, Oligodontia, Delayed eruption of teeth, Tooth malposition, Abnormal palate morphol... ORPHA:2712
Moderate Hemophilia A
Prolonged bleeding after surgery, Abnormal bleeding, Joint hemorrhage, Intraventricular hemorrhag... ORPHA:169805
Lipoid Proteinosis
Tongue nodules, Microglossia, Abnormal oral mucosa morphology, Abnormality of the gingiva, High p... ORPHA:530
Cinca Syndrome
Premature birth, Edema, Urticaria, Purpura ORPHA:1451
Stormorken-Sjaastad-Langslet Syndrome
Purpura ORPHA:3204
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Camptodactyly of finger ORPHA:2928
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Prolonged bleeding after dental extrac... OMIM:619267
Deafness-Craniofacial Syndrome
Short philtrum, Abnormal palate morphology, Abnormality of the dentition, Short lingual frenulum,... ORPHA:3241
Paralytic ileus, Lower limb muscle weakness, Hypoplasia of the musculature, Abnormal skeletal mus... ORPHA:2912
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Branchioskeletogenital Syndrome
Highly arched eyebrow, Absent nipple, Synophrys, Umbilical hernia, Eyelid coloboma, Downslanted p... ORPHA:1299
Sweeney-Cox Syndrome
Generalized hirsutism, Widow's peak, Upper eyelid coloboma OMIM:617746
Birk-Barel Syndrome
Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion, Bifid uvula, High palate OMIM:612292
Postaxial Acrofacial Dysostosis
Downslanted palpebral fissures, Supernumerary nipple, Ectropion, Eyelid coloboma OMIM:263750
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Downslanted palpebral fissures, Ptosis, Exencephaly, Eyelid coloboma ORPHA:2211
Gray Platelet Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis ORPHA:721
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Decreased muscle mass, Dental crowding, Cleft palate, Bifid uvula, High, narrow p... OMIM:309583
Tetraamelia Syndrome 2
Ankyloglossia, Glossoptosis, Bilateral cleft lip OMIM:618021
Q Fever
Endocarditis, Pericarditis, Purpura, Abnormal heart valve morphology, Pleural effusion, Pericardi... ORPHA:781
Normokalemic Periodic Paralysis
Abnormality of the tongue OMIM:170600
Macs Syndrome
Prolonged bleeding time, Sparse hair, Palpebral edema, Redundant skin, Cutis laxa, Umbilical hern... OMIM:613075
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Upper eyelid coloboma OMIM:603463
Hypoglossia With Situs Inversus
High palate, Microglossia, Narrow mouth, Hypodontia OMIM:612776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Cleft palate OMIM:300958
Plummer-Vinson Syndrome
Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Tongue atrophy ORPHA:54028
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... ORPHA:2414
Agel Amyloidosis
Arrhythmia, Sparse hair, Orthostatic hypotension due to autonomic dysfunction, Cutis laxa, Dermat... ORPHA:85448
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Myocardial infarction, Menorrhagia, Bruisi... OMIM:155100
Relapsing Polychondritis
Pericarditis, Purpura, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic ... ORPHA:728
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short philtrum, Tooth malposition, Everted lower lip vermilion, Furrowed tongue, High palate ORPHA:1387
22Q11.2 Deletion Syndrome
Polyhydramnios, Corneal neovascularization, Downslanted palpebral fissures, Truncus arteriosus, A... ORPHA:567
Mosaic Trisomy 16
Atrial septal defect, Maternal diabetes, Ventricular septal defect, Abnormal heart morphology, Pr... ORPHA:1708
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Umbilical hernia ORPHA:75497
Frontofacionasal Dysplasia
Blepharophimosis, Ankyloblepharon, Ptosis, Telecanthus, Eyelid coloboma, Absent inner eyelashes, ... OMIM:229400
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Purpura, Urticaria, Vascular skin abnormality, Erythema, Edema, Vasc... ORPHA:761
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Purpura, Conjunctivitis, Dehydration, Hypovolemic shock, Myocarditis, Urticaria ORPHA:810
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid tongue, Supernumerary tooth, Bifid uvula, Microdontia OMIM:258850
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Poor wound healing, Mitral valve calcification, Spontaneous, recurrent epistaxis, Ptosis, Skin ul... ORPHA:2072
Constricting Bands, Congenital
Ectopia cordis, Eyelid coloboma OMIM:217100
Melkersson-Rosenthal Syndrome
Furrowed tongue, Macroglossia, Facial palsy, Cheilitis ORPHA:2483
Gingival cleft, Unilateral cleft lip, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2189
Rin2 Syndrome
Redundant skin, Hirsutism, Umbilical hernia, Sparse scalp hair, Upper eyelid edema, Downslanted p... ORPHA:217335
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Thin vermilion border, Arthrogryposis multiplex congenita, Short philtrum, Deep philtrum, Smooth ... OMIM:618622
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Facial hypotonia, Diastema, Lower limb hypertonia, Smooth philtrum, Thin upper lip vermilion, Fur... OMIM:300534
Orofaciodigital Syndrome Xv
Lobulated tongue OMIM:617127
Treacher-Collins Syndrome
Low anterior hairline, Absent eyelashes, Abnormal hair morphology, Branchial fistula, Blepharospa... ORPHA:861
Buratti-Harel Syndrome
Bifid uvula, High palate, Velopharyngeal insufficiency, Submucous cleft hard palate OMIM:619314
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short philtrum, Narrow mouth, Cleft palate, Bifid uvula, High palate, Pyloric stenosis ORPHA:96184
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Purpura, T-wa... ORPHA:466677
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Villous atrophy, Flexion contracture, Joint contracture of th... OMIM:601110
Schilbach-Rott Syndrome
Bifid uvula, Narrow mouth, Submucous cleft hard palate OMIM:164220
Rapp-Hodgkin Syndrome
Narrow mouth, Small, conical teeth, Hypodontia, Bifid uvula, Cleft upper lip, Cleft palate, Conic... OMIM:129400
Scalp-Ear-Nipple Syndrome
Sparse hair, Palpebral edema, Breast aplasia, Hypertension, Eyelid coloboma, Telecanthus ORPHA:2036
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse, Mitral regurgitation, Bruising susceptibility, Aortic regurgitation OMIM:225320
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Raynaud phenomenon, Hypertension, Cutis marmorata, Dilated cardiomyopathy, Portal hypert... OMIM:615688
Giant platelet syndrome with thrombocytopenia
Prolonged bleeding after dental extraction, Bruising susceptibility, Gastrointestinal hemorrhage OMIM:137560
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Hypoplasia of the musculature, High, narrow palate, Long philtrum ORPHA:1101
Charcot-Marie-Tooth Disease Type 1F
Hand muscle weakness, Flexion contracture of finger, Scapular winging, Proximal lower limb amyotr... ORPHA:101085
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Auriculocondylar Syndrome
Narrow mouth, Difficulty in tongue movements, Dental crowding, Mandibular condyle aplasia, Hamart... ORPHA:137888
Ehlers-Danlos Syndrome, Classic Type, 1
Premature birth following premature rupture of fetal membranes, Poor wound healing, Epicanthus, U... OMIM:130000
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Charge Syndrome
Polyhydramnios, Highly arched eyebrow, Abnormal aortic valve morphology, Epicanthus, Abnormal car... ORPHA:138
Frontometaphyseal Dysplasia
Camptodactyly of finger, Oligodontia, Shoulder muscle hypoplasia, Interphalangeal joint contractu... ORPHA:1826
Granulomatosis With Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Purpura, Angina pectoris, Epistaxis, Hyper... ORPHA:900
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Umbilical hernia, Protruding tongue, Cleft palate, Bifid uvula OMIM:612938
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
1Q41Q42 Microdeletion Syndrome
Cleft palate, Thick vermilion border, Submucous cleft hard palate, Congenital diaphragmatic hernia ORPHA:250999
Pseudoxanthoma Elasticum
Thickened nuchal skin fold, Gastrointestinal hemorrhage, Abnormal endocardium morphology, Restric... ORPHA:758
Orofaciodigital Syndrome Vi
Tongue nodules, Cleft upper lip, Cleft palate, High palate, Accessory oral frenulum OMIM:277170
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrial septal defect, Poor wound healing, Aortic regurgitation, Abnormal heart valve morphology, ... ORPHA:230851
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Joint hemo... OMIM:277480
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300602
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Bruising susceptibility, Poor wound healing, Breech presentation OMIM:130060
Hermansky-Pudlak Syndrome 1
Albinism, Prolonged bleeding time, Abnormal hair morphology, Hematochezia, Epistaxis, Gingival bl... OMIM:203300
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Unilateral cleft palate, Submucous cleft hard palate OMIM:619122
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate ORPHA:2804
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Erythema, Congestive heart fail... ORPHA:727
Kyphoscoliotic Ehlers-Danlos Syndrome
Antenatal intracerebral hemorrhage, Poor wound healing, Subdural hemorrhage, Epicanthus, Synophry... ORPHA:536545
Kagami-Ogata Syndrome
Polyhydramnios, Blepharophimosis, Large placenta, Premature birth, Frontal hirsutism ORPHA:254519
Agnathia-Otocephaly Complex
Microglossia, Narrow mouth, Aglossia, Cleft palate OMIM:202650
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Spina bifida occulta, Cleft palate, Bifid uvula, High, narrow palate, ... ORPHA:2780
Kasabach-Merritt Syndrome
Petechiae, Hypertrichosis, Prolonged prothrombin time, Purpura ORPHA:2330
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Downslanted palpebral fissures, Bruising susceptibility ORPHA:157965
Stickler Syndrome, Type I
Bifid uvula, Pierre-Robin sequence, Submucous cleft hard palate, Cleft palate OMIM:108300
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Cleft palate OMIM:618356
Arthrogryposis, Distal, Type 5D
Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly, Furrowed tongue, Cleft ... OMIM:615065
9q subtelomeric deletion syndrome
Protruding tongue DECIPHER:52
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Cleft upper lip, Amyoplasia, Cleft palate OMIM:312150
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis ORPHA:2221
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis, Flushing OMIM:260900
Orofaciodigital Syndrome Iv
Tongue nodules, Hamartoma of tongue, Lobulated tongue, Cleft palate, High palate, Accessory oral ... OMIM:258860
Pallor, Purpura OMIM:254450
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Cleft palate OMIM:612561
Cri-Du-Chat Syndrome
Diastasis recti, Short philtrum, Downturned corners of mouth, Oral cleft, Anterior open-bite malo... OMIM:123450
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Atrial septal defect, Dermal translucency, Poor wound healing, Arterial rupture, Bruising suscept... OMIM:619115
Mcdonough Syndrome
Furrowed tongue, Short philtrum, Diastasis recti, Dental malocclusion OMIM:248950
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Exaggerated median tongue furrow, Thick lower lip vermilio... OMIM:300431
Moebius Syndrome
Arthrogryposis multiplex congenita, Camptodactyly, Abnormality of the dentition, Congenital fibro... OMIM:157900
Trisomy 8Q
Camptodactyly of finger, Everted lower lip vermilion, Non-midline cleft lip, Oral cleft, Bifid to... ORPHA:1752
Microglossia, Narrow mouth, Aglossia OMIM:103300
Noonan Syndrome 3
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Epicanthus, Pulmonic stenosis, P... OMIM:609942
Emanuel Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Dental crowding, Submucous cleft lip... ORPHA:96170
Ehlers-Danlos Syndrome, Vascular Type
Dermal translucency, Hemothorax, Diffuse alveolar hemorrhage, Alopecia of scalp, Fragile skin, Re... OMIM:130050
Spinocerebellar Ataxia 36
Tongue fasciculations, Skeletal muscle atrophy, Tongue atrophy OMIM:614153
Congenital Alpha2-Antiplasmin Deficiency
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, H... ORPHA:79
9Q21.13 Microdeletion Syndrome
Abnormal tongue morphology, Downturned corners of mouth, Gray matter heterotopia ORPHA:531151
Marfanoid-Progeroid-Lipodystrophy Syndrome
Oligohydramnios, Reduced subcutaneous adipose tissue, Progeroid facial appearance, Hypertension, ... OMIM:616914
Moebius Syndrome
Arthrogryposis multiplex congenita, Open mouth, Everted lower lip vermilion, Aplasia of the pecto... ORPHA:570
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Cronkhite-Canada Syndrome
Furrowed tongue, Stomach cancer, Intestinal polyposis, Hamartomatous polyposis, Malabsorption, Hy... ORPHA:2930
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Atrial septal defect, Blepharophimosis, Ventricular septal defect, Cutis laxa, La... ORPHA:96334
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Wide mouth, Unilateral cleft lip, Thick lower lip vermilion, Unilateral cleft palate, Submucous c... OMIM:619103
Down Syndrome
Macroglossia, Narrow palate, Narrow mouth, Downturned corners of mouth, Open mouth, Aganglionic m... ORPHA:870
Roberts-Sc Phocomelia Syndrome
Polyhydramnios, Atrial septal defect, Sparse hair, Stillbirth, Ventricular septal defect, Severe ... OMIM:268300
Pallister W Syndrome
Broad uvula, Agenesis of maxillary central incisor, Agenesis of central incisor, Submucous cleft ... OMIM:311450
Temple Syndrome
Bifid uvula ORPHA:254516
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Long philtrum, Downturned corners of mouth, Deep philtrum, Intestinal malrotation, Smooth philtru... ORPHA:404440
Loeys-Dietz Syndrome 5
Hiatus hernia, Scapular winging, Decreased muscle mass, Congenital finger flexion contractures, F... OMIM:615582
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Downslanted palpebral fissures, Bruising susceptibility, Epicanthus, Aplasia/Hypoplasia of the ey... ORPHA:98791
Orofaciodigital Syndrome Type 2
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... ORPHA:2751
Bleeding Disorder, Platelet-Type, 12
Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:605735
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal lip morphology, Abnormality of the mouth, Aplasia/Hypoplasia of the tongue, Abnormality ... ORPHA:2759
Pallister-Hall-Like Syndrome
Microglossia, Median cleft lip, Cleft palate OMIM:241800
Hermansky-Pudlak Syndrome
Abnormal bleeding, Hypopigmentation of hair, Gastrointestinal hemorrhage, Hyperkeratosis, Long ey... ORPHA:79430
Cutis Marmorata Telangiectatica Congenita
Purpura, Telangiectasia of the skin, Cutis marmorata, Ascites, Intrauterine growth retardation, S... ORPHA:1556
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Bruising susceptibility OMIM:600208
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Intestinal malrotation, Increased overbite, Cleft palate, Bifi... OMIM:113650
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Arrhythmia, Gastrointestinal hemorrhage, Abnormal hea... ORPHA:85443
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Submucous cleft soft palate, Non-mi... ORPHA:1071
Catel-Manzke Syndrome
Camptodactyly, Glossoptosis, Cleft upper lip, Cleft palate, High palate OMIM:616145
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Narrow mouth, Dental crowding, Thin upper lip vermilion, Bifid uvula, ... OMIM:300990
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Albinism, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibi... OMIM:614074
Isolated Cleft Lip
Macrodontia, Non-midline cleft lip, Hypodontia, Umbilical hernia, Supernumerary maxillary incisor... ORPHA:199302
Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Prolonged bleeding time ORPHA:238459
8Q22.1 Microdeletion Syndrome
Long philtrum, Abnormality of the dentition, Submucous cleft hard palate ORPHA:178303
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate, Myopathy, Skeletal muscle atrophy OMIM:614557
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Amyoplasia, Cleft palate OMIM:253290
Spinocerebellar Ataxia Type 36
Tongue fasciculations, Skeletal muscle atrophy, Tongue atrophy ORPHA:276198
Double Outlet Right Ventricle
Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Cleft palate ORPHA:3426
Hemophilia A
Persistent bleeding after trauma, Joint hemorrhage, Bruising susceptibility OMIM:306700
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth ORPHA:1839
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Pachygyria, Open mouth, Congenital muscular dystrophy, Muscular dystrophy, Absent m... ORPHA:258
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Long philtrum, Short philtrum, Drooling, Downturned corners of mouth, Thin upper lip vermilion, B... OMIM:619121
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Spinal muscular atrophy, Flexion contracture of finger, Congenital finger f... ORPHA:466768
Wrinkly Skin Syndrome
Scapular winging, Sparse hair, Umbilical hernia, Hypoplasia of the musculature, Short stature, Sh... OMIM:278250
Meckel Syndrome 12
Bifid uvula, Arthrogryposis multiplex congenita OMIM:616258
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Bruising susceptibility, Poor wound healing, Gingival bleeding OMIM:130080
Myhre Syndrome
Thin vermilion border, Narrow mouth, Skeletal muscle hypertrophy, Gingival cleft, Unilateral clef... ORPHA:2588
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypodontia, Microglossia, Dental malocclusion OMIM:253250
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Albinism, Bruising susceptibility, Epistaxis OMIM:614076
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Prenatal maternal abnormality, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid h... ORPHA:91387
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Albinism, Epistaxis, Menorrhagia, Bruising susceptibility OMIM:614073
Developmental And Epileptic Encephalopathy 80
Long philtrum, Smooth philtrum, Wide mouth, Tented upper lip vermilion, Protruding tongue, Polymi... OMIM:618580
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Menorrhagia, Br... ORPHA:182050
Limb-Mammary Syndrome
Submucous cleft soft palate, Hypodontia, Cleft lip, Cleft palate, Bifid uvula, Cleft hard palate ORPHA:69085
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Bifid uvula, Spinal dysraphism, Cleft palate OMIM:617660
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Subcutaneous hemorrhage, Aortic regurgitation OMIM:603585
Isolated Arrhinia
Eyelid coloboma ORPHA:1134
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Protruding tongue, Wide mouth, Gingival overgrowth, Gray matter heterotopia OMIM:618797
Quebec Platelet Disorder
Menorrhagia, Joint hemorrhage, Epistaxis, Bruising susceptibility OMIM:601709
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Agenesis of permanent teeth, Tongue nodules, Gray matter hetero... OMIM:311200
Spondyloenchondrodysplasia With Immune Dysregulation
Joint swelling, Raynaud phenomenon, Purpura OMIM:607944
Marden-Walker Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Narrow mouth, Muscular dystrophy, Ap... ORPHA:2461
Lelis Syndrome
Furrowed tongue, Carious teeth, Abnormality of the mouth, Hypodontia ORPHA:140936
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Generalized hirsutism, Bruising susceptibility, Hypertension ORPHA:189427
Velocardiofacial Syndrome
Open mouth, Pierre-Robin sequence, Umbilical hernia, Cleft palate, Velopharyngeal insufficiency, ... OMIM:192430
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Abnormality of the dentition, Irregular dentition, Lobulated tongue, Bifid u... ORPHA:2752
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Redundant skin, Pericardial effusion, Bruising susceptibility, Umbilica... ORPHA:536532
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Purpura OMIM:235400
Endocarditis, Pericarditis, Arteritis, Purpura, Pleural effusion, Abnormal aortic valve morpholog... ORPHA:1304
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Fragile teeth, Hypodontia, Selective tooth agen... ORPHA:2959
Mohr Syndrome
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... OMIM:252100
Loeys-Dietz Syndrome 4
Ptosis, Striae distensae, Bicuspid aortic valve, Downslanted palpebral fissures, Mitral valve pro... OMIM:614816
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Duodenal atresia, Spina bifida occulta, Tracheoesophageal fistula, Submucous ... OMIM:619227
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Bruising susceptibility, Epistaxis, Skin ulcer ORPHA:352723
Microcephaly 26, Primary, Autosomal Dominant
Long philtrum, Pachygyria, Protruding tongue, Gingival overgrowth, Simplified gyral pattern OMIM:619179
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Long philtrum, Thin upper lip vermilion, High palate, Pyloric stenosis, Impaired mastication, Sub... ORPHA:457279
Fechtner syndrome
Abnormal bleeding, Menorrhagia, Prolonged bleeding time, Bruising susceptibility OMIM:153640
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Meckel Syndrome, Type 1
Oligohydramnios, Large placenta, Single umbilical artery, Breech presentation, Intrauterine growt... OMIM:249000
Polycythemia Vera
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep... ORPHA:729
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Cleft palate, Bifid uvula, Submucous c... ORPHA:2250
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate ORPHA:2001
Gaucher Disease Type 1
Pericardial effusion, Pedal edema, Ascites, Pulmonary arterial hypertension, Abnormal myocardium ... ORPHA:77259
Lethal Faciocardiomelic Dysplasia
Microglossia, Narrow mouth ORPHA:1972
Orofaciodigital Syndrome Type 10
Long philtrum, Cleft soft palate, Accessory oral frenulum ORPHA:2756
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Tongue fasciculations, Facial palsy, Tongue atrophy OMIM:211530
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Hypertension, Fragile skin, Dorsocervical fat pad, Alopecia, Bruising susceptibility OMIM:615830
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Lymphedema, Bruising susceptibility, Pallor ORPHA:3226
Ritscher-Schinzel Syndrome 2
Short philtrum, Protruding tongue, Camptodactyly OMIM:300963
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Protruding tongue, Macroglossia, Malabsorption OMIM:242860
Hereditary Folate Malabsorption
Glossitis, Cheilitis, Skeletal muscle atrophy ORPHA:90045
Angelman Syndrome
Macroglossia, Drooling, Wide mouth, Protruding tongue, Widely spaced teeth OMIM:105830
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Albinism, Prolonged bleeding time, Epistaxis, Bruising susceptibility OMIM:614075
Chromosome 18Q Deletion Syndrome
Short philtrum, Downturned corners of mouth, Umbilical hernia, Thin upper lip vermilion, U-Shaped... OMIM:601808
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Hypodontia, Bifid uvula, Dens in dente, Macrodontia OMIM:263540
Musculocontractural Ehlers-Danlos Syndrome
Abnormal bleeding, Abnormal heart morphology, Abnormal heart valve morphology, Redundant skin, Do... ORPHA:2953
Zika Virus Disease