Gene Summary

Name:
SET domain containing 5
Synonyms:
2900045N06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal maxilla morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 6.47×10-07
abnormal incisor morphology Setd5tm1a(EUCOMM)Wtsi HET   Early adult 6.43×10-06
abnormal snout morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 8.23×10-11
increased monocyte cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00
absent pinna reflex Setd5tm1a(EUCOMM)Wtsi HET Early adult 9.77×10-06
decreased grip strength Setd5tm1a(EUCOMM)Wtsi HET   Early adult 7.49×10-05
abnormal coat/hair pigmentation Setd5tm1a(EUCOMM)Wtsi HET Early adult 2.66×10-09
abnormal auditory brainstem response Setd5tm1a(EUCOMM)Wtsi HET   Early adult 2.13×10-07
decreased circulating glucose level Setd5tm1a(EUCOMM)Wtsi HET   Early adult 7.00×10-05
increased regulatory T cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Setd5tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal tooth morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.90×10-06
abnormal cranium morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 6.16×10-10
vertebral fusion Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-05

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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.

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

DSS Histology

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

9 Images

Legacy Phenotype Associated Images

View all 268 images

Human diseases caused by Setd5 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 Setd5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Low anterior hairline, Micrognathia, Long philtrum, Scoliosis, Wide nasal bridge, Hyper... OMIM:615761
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Low anterior hairline, Cleft palate, Micrognathia, Long philtrum, Bifid uvula, Scoliosi... ORPHA:404440

The table below shows human diseases predicted to be associated to Setd5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Anonychia, Aplastic/hypoplastic toenail, Carious teeth ORPHA:1094
Filippi Syndrome
Hypertrichosis, Hypodontia, Sparse hair, Thin vermilion border, Short philtrum, Microdontia, Fron... OMIM:272440
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Reticular hyperpigmentation, Hypodontia, Brittle hair, Brittle scalp hair, Con... OMIM:262020
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Cleft palate, Micrognathia, Choreoathetosis, Macrotia, Vertebral f... OMIM:221950
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Dental Anomalies And Short Stature
Hypertrichosis, Narrow vertebral interpedicular distance, Oligodontia, Platyspondyly, Microdontia... OMIM:601216
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Recurrent si... OMIM:619281
Kbg Syndrome
Delayed skeletal maturation, EEG abnormality, Thick eyebrow, Cleft palate, Vertebral fusion, Olig... ORPHA:2332
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Platyspondyly, Joint contract... OMIM:601668
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Lumbar hyperlordosis, Congenital hip dislocation, Scoliosis, Limited elbow e... OMIM:619719
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess, Fr... ORPHA:3352
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Hypodontia, Cleft palate, ... ORPHA:2916
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Intellectual Disability, Birk-Barel Type
Protruding ear, High, narrow palate, Micrognathia, Short philtrum, Congenital finger flexion cont... ORPHA:166108
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Aarskog-Scott Syndrome
Cleft upper lip, Genu recurvatum, Cleft palate, Everted lower lip vermilion, Abnormal vertebral s... ORPHA:915
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autosomal Dominant Severe Congenital Neutropenia
Premature loss of teeth, Periodontitis, Lymphopenia, Osteopenia, Eosinophilia, Monocytosis, Aplas... ORPHA:486
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... OMIM:113000
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Dens in dente, Kyphoscoliosis, Hypoplastic vertebral bodies, Hypodontia, H... OMIM:263540
Ethanolaminosis
Cardiomegaly OMIM:227150
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Radioulnar synostosis, Optic atrophy, Dee... OMIM:605282
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Cari... ORPHA:69125
Otopalatodigital Syndrome Type 1
Anodontia, Increased bone mineral density, Cleft palate, Abnormal vertebral segmentation and fusi... ORPHA:90650
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300602
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Tooth agenesis, Toenail dysplasia, Alopecia, Short philt... ORPHA:2325
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing ... OMIM:214300
Gorlin Syndrome
Hemivertebrae, Vertebral fusion, Scoliosis, Carious teeth, Melanocytic nevus, Mandibular prognath... ORPHA:377
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Irregular vertebral endplates, Advanced ossification of carpal bones, Tooth agenesis... OMIM:618363
Cohen Syndrome
Neutropenia, Macrodontia of permanent maxillary central incisor, High, narrow palate, Thick eyebr... OMIM:216550
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Vertebral clefting, Scoliosis, Microdontia, Patchy disto... ORPHA:1248
Hypodontia-Dysplasia Of Nails Syndrome
Hypoplastic toenails, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Frag... ORPHA:2228
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Fragile nails, Microdontia, Widely spaced teeth, Abn... OMIM:190320
Oculodentodigital Dysplasia, Autosomal Recessive
Large earlobe, Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central inci... OMIM:257850
Verheij Syndrome
Hemivertebrae, Vertebral fusion, Short neck, Long philtrum, Scoliosis, Short nose, Hip dislocatio... OMIM:615583
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia ORPHA:2688
Atkin-Flaitz Syndrome
Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,... OMIM:300431
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Aortic regurgitation, Patent ductus arte... OMIM:616501
Growth Hormone Insensitivity Syndrome
Delayed skeletal maturation, Type II diabetes mellitus, Everted lower lip vermilion, Delayed erup... ORPHA:181393
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Hypopigmentation of hair, Generalized hyperpigment... ORPHA:1355
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Low-set, posteriorly rotated ea... OMIM:615502
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Lumbar hyperlordosis, Butterfly vertebrae, Hyperplasia of the maxilla, Scoliosis, ... ORPHA:313892
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Cleft palate, Abnormal vertebral segmentation and fusion, Short ... ORPHA:2345
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Split-Hand/Foot Malformation 3
High palate, Nail dysplasia, Narrow mouth, Abnormal pinna morphology, Microretrognathia, Cleft pa... OMIM:246560
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evoked potentials, Facial... OMIM:601382
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Oculotrichodysplasia
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Sparse eyelashes, Sparse axillary... OMIM:257960
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Patchy alopecia, Microtia, Short mandibular rami, Poliosis, Delaye... OMIM:141300
Epidermolysis Bullosa, Junctional 4, Intermediate
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... OMIM:619787
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Cleft palate, Craniosyn... OMIM:178110
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... ORPHA:363705
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Waardenburg Syndrome Type 1
Cleft palate, White eyebrow, Short nose, Tented upper lip vermilion, Mandibular prognathia, White... ORPHA:894
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Delayed eruption of teeth, Limited elbow ... OMIM:265900
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn... ORPHA:2889
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Thin vermilion border, Short philtrum, Platyspondyly, Hypoplasia of the ... OMIM:156510
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Low-set, po... ORPHA:2972
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Koolen-De Vries Syndrome
Vertebral segmentation defect, Kyphosis, Protruding ear, Narrow palate, Abnormality of hair textu... ORPHA:96169
Tietz Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
High palate, Cervical C2/C3 vertebral fusion, Flexion contracture, Everted lower lip vermilion, M... OMIM:616549
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormali... OMIM:617519
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, EEG abnormality, Abnormal hair quantity, Open bite, Redu... ORPHA:2617
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, Low anterior hairline, Decreased sensory nerve conduction velocity,... OMIM:218000
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Short nose, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Conductive hearing impairment, Protruding ear, Cleft palate, Everted lower lip verm... OMIM:616367
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Left ventricular noncompaction, Increased intramyocellular li... OMIM:252011
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short neck, Short nose, Mandibular progn... OMIM:193700
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Fragile nails, Camptodactyly of finger, Cario... OMIM:226650
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Stickler Syndrome Type 1
Sensorineural hearing impairment, Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abn... ORPHA:90653
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... OMIM:602400
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Glucose intolerance, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemiv... OMIM:309620
Otodental Dysplasia
Sensorineural hearing impairment, Taurodontia, Agenesis of premolar, Long philtrum, Delayed erupt... OMIM:166750
Trisomy 4P
Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Abnormality of the dentition... ORPHA:1738
Lowry-Maclean Syndrome
Widely patent coronal suture, High, narrow palate, Cleft palate, Craniosynostosis, Retrognathia, ... ORPHA:2409
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Protruding ear, Widely-spaced incisors, Thick eyebrow, Interictal epileptiform activity, Optic at... OMIM:618737
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Lateral Meningocele Syndrome
High palate, Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Scl... OMIM:130720
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae, Short nose OMIM:155050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused thoracic vertebrae, Cleft palate, Short neck, Scoliosis, Fused cervica... OMIM:618469
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Low-set ears, Notched primary central incisor, High anterior hairline OMIM:620062
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal reticulocyte morphology, Micrognathia, Short neck, Abnormality of dental morph... ORPHA:2522
Florid Cemento-Osseous Dysplasia
Avascular necrosis, Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abno... ORPHA:83451
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Flynn-Aird Syndrome
Joint stiffness, Kyphoscoliosis, Increased bone mineral density, Alopecia, Osteoporosis, Carious ... OMIM:136300
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Multiple Synostoses Syndrome 2
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... OMIM:610017
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Camptodactyly of finger, Ulnar deviation of the w... ORPHA:1529
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Shashi-Pena Syndrome
Kyphosis, Accelerated skeletal maturation, Retrognathia, Scoliosis, Osteoporosis, Hypoglycemia, P... OMIM:617190
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Facial palsy, Vertebral fusion, Achilles tendon... OMIM:606612
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Premature loss of primary teeth, Abnormal fingernail morphology, Fine hair, Abnormal to... ORPHA:248
Asymmetric Short Stature Syndrome
Dental crowding, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae OMIM:108450
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde... ORPHA:50814
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Multiple pterygia, Joint dislocation, Cleft palate, Flexion contracture, Microgn... OMIM:312150
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Hypertrichosis, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Short nos... OMIM:213980
Nablus Mask-Like Facial Syndrome
High palate, Sparse hair, Sparse eyebrow, Craniosynostosis, Abnormality of the dentition, Short n... OMIM:608156
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Abcd Syndrome
Polycythemia, Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Tota... OMIM:600501
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Sparse hair, Thin vermilion border, Micrognathia, Osteopenia, D... OMIM:601812
Intellectual Developmental Disorder, Autosomal Recessive 68
Protruding ear, Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Wide nasal bridge OMIM:618302
Spondylocarpotarsal Synostosis Syndrome
Sensorineural hearing impairment, Vertebral segmentation defect, Carpal synostosis, Abnormality o... OMIM:272460
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Intention tremor, Micrognathia, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnor... ORPHA:48431
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Abnormality of the dentition, Short neck, Platyspondyly, Biconcave vertebral bodies,... ORPHA:93315
Klippel-Feil Syndrome 1, Autosomal Dominant
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... OMIM:118100
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Edema, Ascites, Pericardial... OMIM:608776
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Abnormal pinna morphology, Sparse eyebrow, Sparse eyelashes, Crani... ORPHA:178303
Keratoconus Posticus Circumscriptus
Cleft upper lip, Cleft palate, Abnormal vertebral segmentation and fusion, Short neck, Limited el... OMIM:244600
Eem Syndrome
Sparse scalp hair, Abnormality of retinal pigmentation, Absent eyebrow, Sparse body hair, Microdo... ORPHA:1897
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Cleft palate, Craniosynostosis, ... OMIM:201050
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Hirsutism, Retrognathia, Mi... OMIM:613684
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia, Sparse hair OMIM:272980
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Hypoplastic toenails, Abnormal intervertebral disk morphology, Thin vermilion ... ORPHA:2701
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... ORPHA:763
Holoprosencephaly, Recurrent Infections, And Monocytosis
Abnormal pinna morphology, Monocytosis OMIM:610680
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Odontoonychodermal Dysplasia
Nail dysplasia, Widely spaced primary teeth, Sparse scalp hair, Hypodontia, Sparse eyebrow, Short... OMIM:257980
Waardenburg Syndrome, Type 2F
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... OMIM:619947
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Everted lower lip vermilion, Congenital giant melanocytic nevus, Lo... OMIM:137550
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Flexion contracture, Cleft palate, Micrognathia, Abnormal c... OMIM:253290
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Alopecia, Ridged nail, Carious teeth OMIM:614564
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sensorineural hearing impairment, Sparse axillary hair, Sparse facial hair, Osteopenia, Genu valg... OMIM:608154
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Aplasia of the inner ear, Micrognathia, Microtia, first degree, Microdontia, Widely spaced teeth,... OMIM:610706
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Flexion contracture, Alopecia, Generalized hypoplasia of dental enamel, Thorac... OMIM:203550
Frontonasal Dysplasia 1
Low-set ears, Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, ... OMIM:136760
Ramon Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, Narrow pa... ORPHA:3019
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, EEG abnormality, Abnormality of hair ... ORPHA:73223
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
High palate, Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Diabetic ketoacidosis,... OMIM:262190
Multicentric Carpotarsal Osteolysis Syndrome
Wrist pain, Metatarsal osteolysis, Micrognathia, Osteopenia, Ankle pain, Bilateral elbow dislocat... OMIM:166300
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
X-Linked Intellectual Disability Due To Gria3 Mutations
Uplifted earlobe, Kyphosis, Narrow palate, Macrodontia of permanent maxillary central incisor, Ge... ORPHA:364028
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation, Abnorma... ORPHA:2412
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Dental malocclusion, Protruding ear, Fair hair, Blue irides, Curly eyela... OMIM:249630
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Type II diabetes mellitus, Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thora... ORPHA:1436
Fibrodysplasia Ossificans Progressiva
Sensorineural hearing impairment, Conductive hearing impairment, Alopecia, Ectopic ossification i... OMIM:135100
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Fair hair, Blue irides, Malar flattening, Accelerated skeletal maturation,... OMIM:614613
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Hypoplastic toenails, Tooth agenesis, Everted lower lip vermil... ORPHA:1028
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Sensorineural hearing impairment, Low-set ears, Gingival overgrowth, Narrow mouth, Narrow palate,... OMIM:235510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Hypopigmentation of the skin, Hypopigmentation of hair, Platyspondyly, Osteoporosis, Al... ORPHA:2786
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Conductive hearing impairment, Hypodontia, Cleft palate, Hyperconvex nail, Spars... OMIM:106260
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Sparse lateral eyebrow, Cleft... ORPHA:3253
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Hypopigmented skin patches, Blue irides, Joi... OMIM:148820
Atelosteogenesis, Type Iii
Knee dislocation, Malar flattening, Cleft palate, Horizontal sacrum, Micrognathia, Short neck, Sc... OMIM:108721
X-Linked Intellectual Disability, Porteous Type
Frontal balding, Cupped ear, Short philtrum, Hypoplasia of the maxilla, Macrotia, Mandibular prog... ORPHA:93945
Ellis Van Creveld Syndrome
Nail dysplasia, Hypoplastic toenails, Abnormal hair morphology, Delayed skeletal maturation, Hypo... ORPHA:289
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Intrauterine growth retardat... OMIM:618775
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Malar flattening, Abnormality of the vertebral column, Hypoplas... OMIM:109120
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Short neck, Cleft palate, Absent or minimally ossifie... ORPHA:66637
Ring Chromosome 21 Syndrome
EEG abnormality, Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Multiple cafe-au-la... ORPHA:1445
Rapp-Hodgkin Syndrome
Cleft upper lip, Narrow mouth, Progressive alopecia, Velopharyngeal insufficiency, Hypodontia, Cl... OMIM:129400
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Robinow Syndrome, Autosomal Recessive 1
Wide mouth, Triangular mouth, Hypoplastic sacrum, Hemivertebrae, Short neck, Short nose, Long eye... OMIM:268310
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Sensorineural hearing impairment, Lymphopenia, Cleft palate, Splenomegaly, Hypoplasi... OMIM:612541
Lujan-Fryns Syndrome
High palate, Protruding ear, Abnormality of the dentition, Short philtrum, Micrognathia, Scoliosi... ORPHA:776
Mosaic Trisomy 20
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... ORPHA:1724
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Enamel hypoplasia, Dystrophic... ORPHA:251393
Cleft Velum
Conductive hearing impairment, Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft sof... ORPHA:99772
Acrodysostosis
Spinal canal stenosis, Accelerated skeletal maturation, Open bite, Wide nasal bridge, Delayed eru... ORPHA:950
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Tremor, Generalized hyperp... ORPHA:33445
Kniest Dysplasia
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Abnormal ... ORPHA:485
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Increased blood pressure, Edema, ... OMIM:619487
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Kyphosis, Sparse hair, Brittle hair, Coarse hair, Camptodactyly... ORPHA:1883
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascite... ORPHA:36412
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Bone pain, Mandibular osteomyelitis, Osteomyelitis, Joint dislocat... ORPHA:53
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Exaggerated startle response, External ear malformation, Tented upper lip vermilion,... ORPHA:438216
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy ORPHA:79406
3Mc Syndrome 2
Cleft upper lip, Torticollis, Cleft palate, Prominence of the premaxilla, Craniosynostosis, Abnor... OMIM:265050
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Wide mouth, Dental malocclusion, Narrow palate, Microtia, Camptodactyly, Deep philtr... OMIM:227330
20P12.3 Microdeletion Syndrome
Narrow mouth, Malar flattening, Microtia, Long philtrum, Hypoplasia of the maxilla, Thickened hel... ORPHA:261295
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Atrial septal defect, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmia, Ven... ORPHA:26793
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Vertebral fusion, Sacral dimple OMIM:618845
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Malan Syndrome
Gingival overgrowth, Narrow mouth, Accelerated skeletal maturation, Everted lower lip vermilion, ... OMIM:614753
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Short stature, Hydrops fetalis, Grow... OMIM:253250
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Cleft palate, Short nose, Elbow dislocation, Carpal synostosis, Increa... ORPHA:90652
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Protruding ear, Patchy alopecia, Camptodactyly of finger, Hypoplasia of the maxilla,... ORPHA:85279
Waardenburg Syndrome, Type 2A
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, Albinism, White ... OMIM:193510
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion OMIM:122600
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... ORPHA:79113
Congenital Enterovirus Infection
Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Cardiomyopathy, Pleural effusion, Feta... ORPHA:292
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... ORPHA:193
Piebaldism
Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, Long philtrum, White ... ORPHA:2884
Mandibuloacral Dysplasia With Type B Lipodystrophy
High palate, Hyperinsulinemia, Sparse hair, Alopecia, Mottled pigmentation, Acroosteolysis of dis... OMIM:608612
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Short neck, Pterygium, ... OMIM:265000
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Crani... OMIM:259710
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Spondylospinal Thoracic Dysostosis
Micrognathia, Multiple pterygia, Hypoplasia of the maxilla, Arthrogryposis multiplex congenita OMIM:601809
Naegeli-Franceschetti-Jadassohn Syndrome
Premature loss of teeth, Generalized reticulate brown pigmentation, Flexion contracture of finger... ORPHA:69087
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Naegeli-Franceschetti-Jadassohn Syndrome
Fragile nails, Premature loss of teeth, Reticular hyperpigmentation, Carious teeth OMIM:161000
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Scoliosis, Abnormal cranial nerve morpho... OMIM:601596
Trichorhinophalangeal Syndrome, Type I
Sparse hair, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Accelerated bone ... OMIM:190350
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... ORPHA:3145
Marshall Syndrome
Thick upper lip vermilion, Sensorineural hearing impairment, Macrodontia of permanent maxillary c... OMIM:154780
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Angelman Syndrome
Wide mouth, EEG abnormality, Fair hair, Blue irides, Macroglossia, Hypopigmentation of the skin, ... OMIM:105830
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... ORPHA:3456
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Wide mouth, EEG abnormality, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopig... ORPHA:411515
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Sparse hair, Everted lower lip vermilion, Craniosynostosis, Abnormality ... ORPHA:1515
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular hypertrophy, Left ventricular noncompacti... OMIM:619167
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Macrotia OMIM:302350
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... ORPHA:364577
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Hypo... ORPHA:897
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding OMIM:616390
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse eyeb... OMIM:616202
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Anonychia, Carious teeth, Enamel hypoplasia, Nail dystrophy ORPHA:79405
Duane Retraction Syndrome
Sensorineural hearing impairment, Blepharospasm, Irregular hyperpigmentation, Cleft palate, Evert... ORPHA:233
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Prolonged QTc interval ORPHA:231111
Marshall Syndrome
High palate, Thick upper lip vermilion, Sensorineural hearing impairment, Sparse hair, Cleft pala... ORPHA:560
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Posteriorly rotated ears, Alveolar pr... OMIM:273050
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Sparse hair, Short philtrum, Short neck, Short nose, Hypoplasia of teeth, Micrognathia, Long phil... ORPHA:391408
Lamb-Shaffer Syndrome
Micrognathia, Scoliosis, Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Thick vermil... ORPHA:530983
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Pedal edema, Abnormal myocardium mor... ORPHA:77259
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Kyphoscoliosis, Tooth malposition, Cleft palate, H... ORPHA:1598
Waardenburg Syndrome Type 2
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Hypopigm... ORPHA:895
Cockayne Syndrome Type 1
Anodontia, Widely spaced primary teeth, Absent brainstem auditory responses, Hypoplasia of the pr... ORPHA:90321
Koolen-De Vries Syndrome
High palate, Abnormality of hair texture, Cleft palate, Overfolded helix, Open mouth, Sacral dimp... OMIM:610443
Ehlers-Danlos Syndrome, Classic-Like, 2
High palate, Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermo... OMIM:618000
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Sensorineural hearing impairment, Pili torti, Abnormal eyebrow morphology, Taurodontia, Abnormal ... ORPHA:3220
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Dyskeratosis Congenita
Sparse hair, Alopecia, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Ap... ORPHA:1775
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Abnormal sacrum morphology, Optic atrophy, Multiple... ORPHA:207
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Wide mouth, Biconcave vertebral bodies, Scoliosis, Optic disc p... OMIM:619260
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Sensorineural hearing impairment, Narrow mouth, Conductive hearing impairment, Micro... ORPHA:1307
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Periodontitis, Beaking of vertebral bodies, K... OMIM:231070
Nager Syndrome
Wide mouth, Joint stiffness, Cleft palate, Microtia, Aplasia/Hypoplasia of the eyebrow, Micrognat... ORPHA:245
Robinow Syndrome
Dental crowding, Triangular mouth, Hemivertebrae, Short nose, Ankyloglossia, Tooth malposition, M... ORPHA:97360
Cardioacrofacial Dysplasia 1
Nail dysplasia, Accessory oral frenulum, Short philtrum, Diastema, Genu valgum, Conical tooth, Hy... OMIM:619142
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Short nose, Hypoplasia of the maxilla, Epiphyseal stippling of toe phalanges, ... ORPHA:79345
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Wildervanck Syndrome
Fused cervical vertebrae, Hearing impairment, Pseudopapilledema OMIM:314600
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Kyphosis, Scoliosis, Hypoplasia of the maxilla, Mandibular prognathia OMIM:300676
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Malar flattening, Abnormal sacrum morphology, Abnormal form of the... ORPHA:93262
Kbg Syndrome
Protruding ear, Low anterior hairline, Thick eyebrow, Vertebral fusion, Oligodontia, Short neck, ... OMIM:148050
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Coronal craniosynostosis, Micrognathia, Optic disc coloboma, Aglos... OMIM:241310
Pallister W Syndrome
Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hair, Camptodactyl... OMIM:311450
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture OMIM:607155
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Tooth Agenesis, Selective, 4
Sparse scalp hair, Tooth agenesis, Sparse eyebrow, Sparse body hair, Short eyelashes, Agenesis of... OMIM:150400
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Taurodontia, High, narrow palate, Short philtrum, Hypopigmentat... ORPHA:3214
Orofaciodigital Syndrome Type 2
High palate, Cleft palate, Tongue nodules, Hypoplasia of teeth, Peg-shaped maxillary lateral inci... ORPHA:2751
Dysostosis, Stanescu Type
Kyphosis, Tooth agenesis, Increased bone mineral density, Macroglossia, Abnormality of the dentit... ORPHA:1798
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Pulmonary edema, Left ventricular hyp... ORPHA:57777
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Macrodontia of permanent maxillary central incisor, Retrognathia, Intention tremo... ORPHA:466722
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Accelerated skeletal maturation, Malar flattening, Micrognathia, S... ORPHA:439822
Ohdo Syndrome
Narrow mouth, Sparse eyebrow, Microtia, Thin vermilion border, Micrognathia, Long philtrum, Wide ... OMIM:249620
Muenke Syndrome
Sensorineural hearing impairment, Carpal synostosis, Hypermelanotic macule, High, narrow palate, ... ORPHA:53271
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Conductive hearing impairment, Anterior vertebral fusion, Malar flattening, Microtia, Long philtr... OMIM:171480
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Hypophosphatasia, Adult
Recurrent fractures, Chondrocalcinosis, Premature loss of primary teeth, Osteomalacia, Premature ... OMIM:146300
Qazi-Markouizos Syndrome
Torticollis, EEG abnormality, Delayed ossification of carpal bones, High, narrow palate, Dysharmo... ORPHA:3010
Flynn-Aird Syndrome
Joint stiffness, Kyphosis, EEG abnormality, Type II diabetes mellitus, Alopecia, Scoliosis, Cario... ORPHA:2047
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Trichothiodystrophy 4, Nonphotosensitive
Nail dysplasia, Abnormality of hair texture, Woolly hair, Sparse hair, Brittle hair, Sparse eyela... OMIM:234050
Pycnodysostosis
Narrow palate, Persistence of primary teeth, Hypodontia, Spondylolisthesis, Increased bone minera... OMIM:265800
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Facial hypertrichosis, Long eyelashes, Hypoplasia of the maxilla, Leuk... OMIM:180849
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ulnar radial head dislocation, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Orofacial Cleft 15
Protruding ear, Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft pa... OMIM:616788
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Delayed eruption of teeth, C1-C2 subluxation, Hypoplasia of the maxilla, Delayed clos... OMIM:259600
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia ORPHA:93950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... ORPHA:794
Ataxia-Telangiectasia
Premature graying of hair, Type II diabetes mellitus, Lymphopenia, Hypopigmentation of hair, Trem... ORPHA:100
Coffin-Lowry Syndrome
High palate, Wide mouth, Delayed eruption of teeth, Advanced eruption of teeth, Optic atrophy, Hy... ORPHA:192
Chediak-Higashi Syndrome
Periodontitis, Ocular albinism, Decreased nerve conduction velocity, Hemophagocytosis, Splenomega... OMIM:214500
Alopecia Antibody Deficiency
Conductive hearing impairment, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:1006
Waardenburg Syndrome, Type 4B
Sensorineural hearing impairment, Hypopigmented skin patches, Blue irides, White eyebrow, White e... OMIM:613265
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Cleft palate, Abnormal hair whorl, Optic atrophy, Short nose, Hypoplasia of the max... OMIM:614261
Congenital Toxoplasmosis
Intrauterine growth retardation, Ascites, Hepatomegaly, Cardiomegaly ORPHA:858
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distichiasis, H... OMIM:211370
Laron Syndrome
Tooth agenesis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Microdontia, Hypoglycemi... ORPHA:633
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Short neck, Optic atrophy, Genu valgum, Sagittal craniosy... OMIM:201000
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hydrops fetal... ORPHA:77261
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Abnormal pinna morphology, Microretrognathia, Thick eyebrow, Highly arched eyebrow, Long philtrum... ORPHA:228396
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Spondylolisthesis, Congenital hip dislocation, Scoliosis, Joint laxity... OMIM:229200
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... ORPHA:320401
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Hypertrichosis, Butterfly vertebrae, Retrognathia, Spina bifida occulta, Fused cervical vertebrae... OMIM:619227
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Hypoplasia of the maxilla, C... ORPHA:861
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Histidinuria-Renal Tubular Defect Syndrome
Sensorineural hearing impairment, Hypoplastic toenails, Long philtrum, Hypoglycemia, Macrotia, De... ORPHA:2158
Piebald Trait-Neurologic Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... ORPHA:2885
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Acute Interstitial Pneumonia
Hypertension, Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Myhre Syndrome
Sparse hair, Cleft palate, Short philtrum, Short neck, Platyspondyly, Hypoplasia of the maxilla, ... OMIM:139210
Juvenile Idiopathic Arthritis
Joint swelling, Hepatomegaly, Pericardial effusion, Splenomegaly ORPHA:92
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Periorbital hyperpigmentation, Sparse hair, Sparse eyebrow, Microdontia, Short nos... OMIM:305100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sensorineural hearing impairment, Abnormality of the tongue, Hypodontia, Sparse hair, Alopecia, A... ORPHA:659
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Myositis, Edema, Pleural effusion, Ascites, Pericardial effusion ORPHA:93552
Mogs-Cdg
High palate, Absent brainstem auditory responses, Sensorineural hearing impairment, Hirsutism, Fa... ORPHA:79330
Non-Specific Syndromic Intellectual Disability
High palate, Conductive hearing impairment, Narrow mouth, Kyphosis, Joint hypermobility, Thin ver... ORPHA:528084
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Splenomegaly, Short stature, Hydrops fetalis, Ascites, Skeletal muscl... OMIM:256550
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasi... ORPHA:238468
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, EEG abnormality, EEG with focal epileptiform discharges, Hypopigmentation of the skin... ORPHA:98795
Infantile Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Long nose, Fused ce... OMIM:184460
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Low anterior hairl... ORPHA:73272
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Sensorineural hearing impairment, Conductive hearing impairment... OMIM:615546
Aarskog-Scott Syndrome
Cleft upper lip, Large earlobe, Hypodontia, Cleft palate, Hyperextensibility of the finger joints... OMIM:305400
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Q Fever
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... ORPHA:781
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Arthrogryposis multiplex congenita, Camptodactyly OMIM:617822
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Simpson-Golabi-Behmel Syndrome
Wide mouth, Abnormal helix morphology, Accelerated skeletal maturation, Cleft palate, Short neck,... ORPHA:373
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Low anterior hair... OMIM:617796
Trisomy 10P
High palate, EEG with focal spikes, Flexion contracture of thumb, Retrognathia, Micrognathia, Thi... ORPHA:171929
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Myopathy, Reduced muscle c... OMIM:212140
Dyskeratosis Congenita, Autosomal Dominant 1
Nail pits, Premature loss of teeth, Premature graying of hair, Lymphopenia, Sparse hair, Reticula... OMIM:127550
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Sensorineural hearing impairment, Conductive hearing impairment... OMIM:601390
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Cleft palate, Micrognathia, Aplasia/Hypoplasia of the patella, ... ORPHA:3320
Crisponi/Cold-Induced Sweating Syndrome 1
High palate, Low-set ears, Narrow mouth, Kyphoscoliosis, Opisthotonus, Retrognathia, Micrognathia... OMIM:272430
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, EEG abnormality, Limitation of movement at ankles, Hypopigmentation of the skin, Hypo... ORPHA:98794
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hirsutism, Low anterior hairline, Malar flattening, Wide nasal bridge, Hypoglycemia, Tremor, High... OMIM:220111
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... OMIM:606842
Keipert Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggera... ORPHA:2662
Blepharo-Cheilo-Odontic Syndrome
Conductive hearing impairment, Abnormal hair quantity, Carious teeth, Bilateral cleft lip and pal... ORPHA:1997
Mandibuloacral Dysplasia
High palate, Dental crowding, Glucose intolerance, Hyperinsulinemia, Sparse hair, Alopecia, Insul... ORPHA:2457
Chops Syndrome
Cervical C2/C3 vertebral fusion, Thick hair, Thick eyebrow, High, narrow palate, Splenomegaly, Tr... OMIM:616368
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Cockayne Syndrome A
Abnormal pinna morphology, Sparse hair, Retinal pigment epithelial mottling, Dry hair, Carious te... OMIM:216400
Caudal Regression Syndrome
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... ORPHA:3027
Hermansky-Pudlak Syndrome 2
Generalized hypopigmentation, Carious teeth, Fair hair, Splenomegaly, Long philtrum, Decreased CD... OMIM:608233
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Cupped ear, Hypoplasia of the maxilla, Widow's peak, Low-set ears, Wide nasal bridge OMIM:167730
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Hirsutism, Kyphoscoliosis, Flexion contracture, Retrognathia, Osteopenia, Hypoglycem... OMIM:618005
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Pleural effusion, Subconj... ORPHA:464329
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Pulmonary ede... ORPHA:980
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Pleural effusion, Splenomegaly OMIM:613011
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Retrognathia, Micrognathia, Optic nerve hypoplasia, Low-set, po... OMIM:618156
Craniometadiaphyseal Dysplasia
High palate, Low-set ears, Sclerosis of skull base, Malar flattening, Osteopenia, Scoliosis, Micr... OMIM:269300
Mucopolysaccharidosis, Type Iva
Wide mouth, Anterior beaking of lumbar vertebrae, Short neck, Platyspondyly, Carious teeth, Genu ... OMIM:253000
Primary Intestinal Lymphangiectasia
Edema, Pleural effusion, Generalized edema, Growth delay, Ascites, Pericardial effusion ORPHA:90362
Mohr Syndrome
High palate, Conductive hearing impairment, Accessory oral frenulum, Agenesis of central incisor,... OMIM:252100
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Protruding ear, Joint hypermobility, Flexion contracture, Thin vermilion border, Ove... ORPHA:481152
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Radioulnar synostosis, Carious teeth ORPHA:2760
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Abnormally folded helix, Flexion contracture, Hyperextensibility of the finger joint... OMIM:309520
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Hypoplastic toenails, Hypoplastic thumbnail, Moderate hearing im... ORPHA:370010
Lelis Syndrome
Yellow nails, Sparse hair, Hypodontia, Carious teeth, Furrowed tongue, Vitiligo, Perioral hyperpi... ORPHA:140936
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal number of dense granules, Gingiv... OMIM:614072
Cockayne Syndrome B
Abnormal pinna morphology, Sparse hair, Dry hair, Carious teeth, Optic atrophy, Tremor, Mandibula... OMIM:133540
Poems Syndrome
Pulmonary arterial hypertension, Visceromegaly, Pleural effusion, Edema, Ascites, Pericardial eff... ORPHA:2905
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... OMIM:601499
Elsahy-Waters Syndrome
High palate, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, Mandibular pro... OMIM:211380
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Flexion contracture, Nonimmune hydrops fetalis, Cardiomyopathy, Edema, Pericarditis... OMIM:212065
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Gingival overgrowth, Gingival hyperkeratosis, Hirsutism, Hypodontia, Recurrent mandibular subluxa... OMIM:225410
Basal Cell Nevus Syndrome
Cleft upper lip, Kyphoscoliosis, Irregular ossification of hand bones, Cleft palate, Hemivertebra... OMIM:109400
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Frontometaphyseal Dysplasia
Cleft palate, Craniosynostosis, Limitation of movement at ankles, Limitation of knee mobility, Mi... ORPHA:1826
Doors Syndrome
High palate, Macrodontia of permanent maxillary central incisor, Cleft palate, Abnormality of the... ORPHA:79500
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Delayed skeletal maturation, Prominent frontal sinuses, Persistence of primary teeth... OMIM:170390
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Cantú Syndrome
Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morphology, Hypertrophic cardiom... ORPHA:1517
Gorlin-Chaudhry-Moss Syndrome
Conductive hearing impairment, Generalized hirsutism, Low anterior hairline, Coronal craniosynost... ORPHA:2095
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Wide mouth, Kyphosis, Joint dislocation, Reduced bone mineral density, Abn... ORPHA:582
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hearing impairme... ORPHA:782
Poikiloderma With Neutropenia
Joint stiffness, Reticular hyperpigmentation, Sparse eyebrow, Splenomegaly, Retrognathia, Microgn... OMIM:604173
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Delayed skeletal maturatio... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Hypopigmentation of the skin, Hypoglycemic seizures, Delayed skeletal maturatio... ORPHA:71526
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dental malocclusion, Dislocated radial head, Hypoplastic vertebral bodies,... OMIM:101800
Mucopolysaccharidosis, Type Ivb
Wide mouth, Kyphosis, Platyspondyly, Scoliosis, Osteoporosis, Grayish enamel, Carious teeth, Hype... OMIM:253010
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of dental color, Amelogenesis imp... ORPHA:1873
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hematemesis, Splenomegaly, Limb hypertonia, Oligohydramnios, Vasculitis, Hematochez... OMIM:615846
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... ORPHA:75565
Aicardi Syndrome
Cleft upper lip, Protruding ear, EEG abnormality, Abnormality of retinal pigmentation, Butterfly ... ORPHA:50
Amelocerebrohypohidrotic Syndrome
EEG abnormality, Abnormality of dental color, Yellow-brown discoloration of the teeth, Amelogenes... ORPHA:1946
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Short stature, Camptodactyly, Patent ductus arteriosus, Postnata... ORPHA:1272
Waardenburg Syndrome
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... ORPHA:3440
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Genu valgum, Short nose, Hypsarrhythmia, Mandibular progn... OMIM:616007
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Hypoplasia of the maxilla, Breast hypoplas... OMIM:613804
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Bundle branch... ORPHA:99827
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis