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 cranium morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 6.16×10-10
increased regulatory T cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00
abnormal tooth morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.90×10-06
vertebral fusion Setd5tm1a(EUCOMM)Wtsi HET Early adult 3.92×10-05
abnormal snout morphology Setd5tm1a(EUCOMM)Wtsi HET Early adult 8.23×10-11
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
increased monocyte cell number Setd5tm1a(EUCOMM)Wtsi HET Early adult 0.00
preweaning lethality, complete penetrance Setd5tm1a(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Setd5tm1a(EUCOMM)Wtsi HET   Early adult 2.17×10-07
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
decreased circulating glucose level Setd5tm1a(EUCOMM)Wtsi HET   Early adult 7.00×10-05

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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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology

Images

6 Images

Eye Morphology

Images Slit Lamp

2 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
Wide nasal bridge, Low-set ears, Dental crowding, Downturned corners of mouth, Long philtrum, Mic... OMIM:615761
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Wide nasal bridge, Bifid uvula, Low-set ears, Highly arched eyebrow, Downturned corners of mouth,... ORPHA:404440

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Aplastic/hypoplastic toenail, Carious teeth, Anonychia ORPHA:1094
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Filippi Syndrome
Wide nasal bridge, Optic atrophy, Frontal hirsutism, Hypertrichosis, Serrated incisors, Abnormal ... OMIM:272440
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Delayed skeletal maturation, Widely spaced teeth, Hyper... OMIM:601216
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Kbg Syndrome
Bilateral conductive hearing impairment, Long philtrum, Macrotia, Delayed skeletal maturation, Ma... ORPHA:2332
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymph... OMIM:619281
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Scoliosis, Dental malocclusion, Widely-spaced maxillary central incis... OMIM:619719
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Oligohydramnios, Pleural e... OMIM:614702
Rubinstein-Taybi Syndrome 2
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Long eyel... OMIM:613684
Liang-Wang Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618729
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Intellectual Disability, Birk-Barel Type
High, narrow palate, Highly arched eyebrow, Foot joint contracture, Micrognathia, Open mouth, Ten... ORPHA:166108
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Micrognathia, Narrow mouth, Abnormal optic disc morphology, Tars... ORPHA:363417
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cantu Syndrome
Congenital hypertrophy of left ventricle, Umbilical hernia, Lymphedema, Cardiomegaly, Bicuspid ao... OMIM:239850
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, High anterior hairlin... ORPHA:915
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal form of the vertebral bodies, Abn... ORPHA:2916
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Oral ulce... ORPHA:486
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... ORPHA:49042
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Ethanolaminosis
Cardiomegaly OMIM:227150
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hypoplastic fi... OMIM:113000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Highly arched eyebrow, Diastema, Carpal synostosis, Microdontia, Radioulnar synost... OMIM:605282
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Low posterior h... OMIM:214300
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnor... ORPHA:2325
Clark-Baraitser syndrome
Genu recurvatum, Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Promin... OMIM:300602
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Limitation of joint mobility, Hearing impairment, Elbow dislocation, Synostosi... ORPHA:90650
Anonychia With Flexural Pigmentation
Carious teeth, Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morpholog... ORPHA:69125
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Dental crowding, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Lum... ORPHA:313892
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia ORPHA:2688
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Sacral dimple, Long eyelashes, Narrow mouth, Thin vermilion border, ... OMIM:615502
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Tooth agenesis, Open bite, Patchy distortion of vertebrae, Microdontia... ORPHA:1248
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of... ORPHA:2228
Verheij Syndrome
Wide nasal bridge, Retrognathia, Long philtrum, Joint hypermobility, Thin upper lip vermilion, Sh... OMIM:615583
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d... OMIM:190320
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic... OMIM:614564
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial... OMIM:601382
Frontometaphyseal Dysplasia 1
Hearing impairment, Partial fusion of carpals, Carpal synostosis, Genu valgum, Sensorineural hear... OMIM:305620
Isolated Klippel-Feil Syndrome
Hearing impairment, Abnormality of the vertebral column, Abnormal cranial nerve morphology, Low p... ORPHA:2345
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dent... OMIM:257850
Hydrops Fetalis
Generalized edema, Lymphedema, Abnormal heart morphology, Ascites, Pleural effusion, Polyhydramni... ORPHA:1041
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Ridged nail, Narrow mouth, Nail dystrophy, Nail dys... OMIM:246560
Developmental And Epileptic Encephalopathy 66
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout... OMIM:618067
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morphology, Hypopigmentation of... ORPHA:1355
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Meckel Syndrome, Type 8
Pericardial effusion, Occipital encephalocele, Encephalocele, Enlarged kidney OMIM:613885
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Kyphosis, Patchy alopecia, Horner syndrome, Tongu... OMIM:141300
Pyle Disease
Platyspondyly, Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of... OMIM:265900
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va... ORPHA:2972
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Coni... OMIM:602400
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Low-set ears, Long philtrum, Micrognathia, Acetabular dysplasia, Thin upper lip vermilion, Low po... OMIM:616549
Waardenburg Syndrome Type 1
Hearing impairment, Hypopigmented skin patches, Premature graying of hair, Abnormal hair morpholo... ORPHA:894
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormality of skin pigmentation... ORPHA:42665
Koolen-De Vries Syndrome
Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Kyphosis, Abnormal dental e... ORPHA:96169
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Alopecia, Dental crowding, Cupped ear... OMIM:616367
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Ragged-red m... OMIM:252011
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy... OMIM:226650
Pili Torti
Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab... ORPHA:2889
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Thin vermilion bord... OMIM:156510
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Pursed lips, Narrow mouth, Hip contracture, Sh... OMIM:193700
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... ORPHA:1193
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Premature graying of hair, Open bite, Low-set, posteriorly rotated ears, Micrognat... ORPHA:2617
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Notched primary central incisor, High anterior hairline, Sparse scalp hair OMIM:620062
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Thick eyebrow, Thin upper lip vermilion, Smooth philtru... OMIM:618737
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Hearing impairment, Micrognathia, Genu valgum, Hip contracture, Advanced ossificat... OMIM:618363
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid valve annulus morpho... ORPHA:555874
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Decreased motor nerve conduction velocity, Macrotia... OMIM:218000
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Hearing i... ORPHA:189
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,... ORPHA:90653
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,... OMIM:617519
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... OMIM:618469
Trisomy 4P
Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Camptodactyly of finger... ORPHA:1738
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Low-set ears, Hearing impairment, Carpal synostosis, Hip contracture, Short neck, Tarsal synostos... OMIM:178110
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Increased variability in muscle fibe... OMIM:617228
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Lowry-Maclean Syndrome
High, narrow palate, Low-set ears, Hypoplasia of the maxilla, Generalized hypertrichosis, Osteope... ORPHA:2409
Christian Syndrome
Wide nasal bridge, Thoracic hemivertebrae, Glucose intolerance, Fused cervical vertebrae, Scolios... OMIM:309620
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ... ORPHA:50814
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Low-set ears, Abnormal dental morphology, Malar prominence, Mic... ORPHA:2522
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Micrognathia, Low posterior hairline,... OMIM:213980
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Flynn-Aird Syndrome
Alopecia, Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Increased... OMIM:136300
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... ORPHA:83451
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal dental morphology, Abnormal hair mo... ORPHA:248
Multiple Pterygium Syndrome, X-Linked
Low-set ears, Joint dislocation, Cleft upper lip, Micrognathia, Increased susceptibility to fract... OMIM:312150
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Spondylocarpotarsal Synostosis Syndrome
Capitate-hamate fusion, Hypoplasia of the odontoid process, Failure of eruption of permanent teet... OMIM:272460
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Small nail, Recurrent otitis med... OMIM:129400
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Abnormality of the wrist, Narrow mouth, Senso... ORPHA:1529
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Short neck, Cleft palate, Abnormal verte... OMIM:244600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Fa... OMIM:606612
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Whi... OMIM:600501
Klippel-Feil Syndrome 1, Autosomal Dominant
Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment, Low posterio... OMIM:118100
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Protruding ear, Broad eyebrow, Synophrys OMIM:618302
Lateral Meningocele Syndrome
Low-set ears, Coarse hair, Dental crowding, Conductive hearing impairment, Long philtrum, Scleros... OMIM:130720
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
8Q22.1 Microdeletion Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Low-set ears, Sparse ... ORPHA:178303
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Pycnodysostosis
Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Micrognathia, Mild conductive ... ORPHA:763
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Carious teeth, Hearing impairment, Delayed skeletal maturation, Thick lower li... ORPHA:2701
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Sparse body hair, Abnormal dental m... ORPHA:1897
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Odontoonychodermal Dysplasia
Sparse eyebrow, Dry hair, Short nail, Smooth tongue, Widely spaced primary teeth, Sparse body hai... OMIM:257980
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermili... ORPHA:364028
Melanocytic Nevus Syndrome, Congenital
Long philtrum, Congenital giant melanocytic nevus, Open mouth, Prominence of the premaxilla, Deep... OMIM:137550
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, Thoracic kyp... OMIM:203550
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Hearing impairment, Thick vermilion border, O... OMIM:620114
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme... ORPHA:66637
Multiple Pterygium Syndrome, Lethal Type
Low-set ears, Joint dislocation, Micrognathia, Increased susceptibility to fractures, Multiple pt... OMIM:253290
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Delayed skeletal ... OMIM:608154
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Abno... ORPHA:3019
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... OMIM:620135
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Crani... ORPHA:210110
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Type II diabetes mellitus, Abnormal sacrum morphology, Scoliosis, Fused c... ORPHA:1436
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Wide nasal bridge, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermi... ORPHA:438216
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Hearing impairment, Small nail, Delayed cranial suture closure, Thoracic hemiverteb... OMIM:268310
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Narrow mouth, Malar flattening, Abnormal palate mo... ORPHA:2412
Frontonasal Dysplasia 1
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Joint contracture of the hand, Conduc... OMIM:136760
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Micrognathia, Bilateral cleft palate, Anodontia, Sparse hair, Macrotia, Alopecia, ... ORPHA:3253
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Shashi-Pena Syndrome
Low-set ears, Highly arched eyebrow, Cupped ear, Retrognathia, Hypoglycemia, Hypertrichosis, Long... OMIM:617190
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypertrichosis, Hypoglycemia, Hy... OMIM:262190
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis ORPHA:2776
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Hypoglycemia, Malar prominence, Micrognathia, Abnormality of peripheral nerve conductio... ORPHA:48431
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Cupped ear, Frontal balding, Short philtrum, Mandibular prognathia, Ma... ORPHA:93945
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocation, Knee dislocation, Micrognathia, ... OMIM:108721
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky... ORPHA:2786
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Hypopigmented skin patches, Premature graying o... OMIM:148820
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro... ORPHA:251393
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Wide nasal bridge, Depigmentation/hyperpigmentation of skin, Abnormality of hair texture, Osteope... ORPHA:73223
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Synostosis of carp... ORPHA:289
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Wide nasal bridge, Low-set ears, Joint contracture of the hand, Coronal craniosynostosis, Conduct... OMIM:235510
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Hearing impairment, Spinal canal stenosis, Micro... ORPHA:1724
Congenital Syphilis
Optic atrophy, Hearing impairment, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hypo... ORPHA:499009
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect, Persiste... OMIM:618775
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Spinal canal stenosis, Malar flattening, Blue irides, Red hair, Advanced ossification ... OMIM:614613
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Ascites, Pleural effusion, Splenomegaly, Hepatomegal... ORPHA:36412
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors... OMIM:610706
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Wide nasal bridge, Hearing impairment, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly,... OMIM:612541
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Multiple cafe-au-lait spots, EEG abnormality, Fused thoracic vertebrae, S... ORPHA:1445
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Abnormality of the vertebral colu... OMIM:109120
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Hearing impai... ORPHA:485
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmenta... ORPHA:33445
Lujan-Fryns Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodac... ORPHA:776
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Multiple muscular ventricular septal defects, Polyhydramnios, Limb hypertonia, Atrial septal defe... OMIM:620070
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis... OMIM:231070
Cardiac-Urogenital Syndrome
Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo... OMIM:618280
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Long philtrum, Long eyelashes, Thin upper lip vermilion, Low... OMIM:617523
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Sensori... ORPHA:1883
Congenital Disorder Of Glycosylation, Type Il
Ascites, Splenomegaly, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Pericardial effusion OMIM:608776
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Carious teeth, Hearing impairment, Limited hip move... ORPHA:93346
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia ORPHA:79406
Fibrodysplasia Ossificans Progressiva
Alopecia, Conductive hearing impairment, Small cervical vertebral bodies, Widely spaced teeth, Ec... OMIM:135100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Aicardi-Goutieres Syndrome 9
Lower limb hypertonia, Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Portal hyper... OMIM:619487
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide nasal bridge, Low-set ears, Downturned corners of mouth, Long philtrum, Narrow mouth, Joint ... OMIM:617333
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Mulibrey Nanism
Congestive heart failure, Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, P... OMIM:253250
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Micrognathia, Open mouth, Genu valgum, Sensorineural hearing ... ORPHA:193
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... OMIM:619313
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia OMIM:601809
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Camptodactyly of finger, Protruding ear, Patchy alopecia, Multiple caf... ORPHA:85279
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Delayed skeletal maturation, Os odontoideum, Irregular denti... OMIM:619260
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Nail dysplasia, Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Hearing impairment, Posteriorly rotated ears, Deep philtrum, ... OMIM:227330
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... ORPHA:79414
Koolen-De Vries Syndrome
Open mouth, Everted lower lip vermilion, High palate, Hip dislocation, Macrotia, Sacral dimple, C... OMIM:610443
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Macrotia OMIM:302350
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Otopalatodigital Syndrome Type 2
Low-set ears, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Carpal synostosi... ORPHA:90652
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Cerebellar-Facial-Dental Syndrome
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Low-set ears, Sparse eyebr... ORPHA:444072
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening, Thic... ORPHA:261295
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrop... ORPHA:292
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Shoulder dislocation, Thin eyebrow, Micrognathia, Generalized joint... OMIM:618000
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Optic atrophy, Carious teeth, Mandibular osteomyelitis, Hearing imp... ORPHA:53
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Limitation of joi... ORPHA:3145
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic pat... OMIM:265000
Larsen Syndrome
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Beaking of vertebral bodie... OMIM:150250
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of... ORPHA:79113
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Marshall Syndrome
Low-set ears, Bifid uvula, Macrodontia of permanent maxillary central incisor, Platyspondyly, Lon... OMIM:154780
Waardenburg Syndrome, Type 2A
Wide nasal bridge, Premature graying of hair, Partial albinism, White forelock, Numerous pigmente... OMIM:193510
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
3Mc Syndrome 2
Wide nasal bridge, Highly arched eyebrow, Abnormal vertebral morphology, Caudal appendage, Downtu... OMIM:265050
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Piebaldism
Wide nasal bridge, Hypopigmented skin patches, Hearing impairment, Long philtrum, White forelock,... ORPHA:2884
Cockayne Syndrome Type 1
Abnormality of the dentition, Optic atrophy, Pigmentary retinopathy, Scoliosis, Hearing impairmen... ORPHA:90321
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Micrognathia, High palate, Peg-shaped maxillary latera... ORPHA:2751
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Wide mouth, EEG abnormality, Hypopigmentatio... ORPHA:411515
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hypoplasia ORPHA:79405
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperglycemia, Hyperinsuline... OMIM:608612
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Dyskeratosis Congenita
Carious teeth, Periodontitis, Hearing impairment, Hypopigmented skin patches, Premature graying o... ORPHA:1775
Waardenburg-Shah Syndrome
Wide nasal bridge, Hearing impairment, Premature graying of hair, Abnormal eyebrow morphology, Wh... ORPHA:897
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Naegeli-Franceschetti-Jadassohn Syndrome
Fragile nails, Carious teeth, Reticular hyperpigmentation, Premature loss of teeth OMIM:161000
Gorlin Syndrome
Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Melanocytic n... ORPHA:377
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclu... OMIM:616202
Wildervanck Syndrome
Congenital sensorineural hearing impairment, Pseudopapilledema, Low posterior hairline, Short nec... ORPHA:3456
Lamb-Shaffer Syndrome
Optic atrophy, Thoracic kyphosis, Micrognathia, Thick vermilion border, Scoliosis, Fused cervical... ORPHA:530983
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair OMIM:616390
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Abnormal fingernail morphology, ... ORPHA:1515
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor... ORPHA:895
Marshall Syndrome
Wide nasal bridge, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse eyebrow, Hypop... ORPHA:560
Nablus Mask-Like Facial Syndrome
Low-set ears, Joint contracture of the hand, Narrow mouth, Frontal upsweep of hair, Sparse eyelas... OMIM:608156
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Angelman Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Hypopigmentation of the skin, Fair hair, Widely... OMIM:105830
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hearing impairment, Micrognathia, Narrow mouth, Short neck, Macrotia, Short nose, Long eyelashes,... OMIM:620250
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Retrognathia, Hearing impair... OMIM:620157
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Nail dysplasia, Short philtrum, ... OMIM:619142
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Microglossia, Hearing impairment, Small nail, Cleft mandible, Thin eyebrow... ORPHA:364577
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Scoliosis, Kyphosis OMIM:607155
Nager Syndrome
Sparse lower eyelashes, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hearing impa... ORPHA:245
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Drug-Induced Lupus Erythematosus
Pericardial effusion, Prolonged QTc interval, Pericarditis ORPHA:231111
Monosomy 18P
Wide nasal bridge, Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Gener... ORPHA:1598
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, High anterior hairline, Hearing impairment, Abnormality of nail col... ORPHA:3220
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate, Scoliosis, Kyphosis OMIM:300676
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Hypo... ORPHA:207
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Scoliosis, Decreased motor nerve cond... OMIM:601596
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches... ORPHA:3214
Acrodysostosis
Wide nasal bridge, Hypoplasia of the maxilla, Joint dislocation, Delayed eruption of teeth, Heari... ORPHA:950
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Paroxysmal dystonia, Kyphoscoli... ORPHA:466722
Recon Progeroid Syndrome
Dental crowding, Hyperconvex thumb nails, Prominence of the premaxilla, Absent lower eyelashes, S... OMIM:620370
Mogs-Cdg
Optic atrophy, Alopecia, Retrognathia, Fair hair, Hepatosplenomegaly, Long eyelashes, Sensorineur... ORPHA:79330
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent otitis media, Lymphopenia, Hepato... OMIM:618986
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Hypomandibular Faciocranial Dysostosis
Coronal craniosynostosis, Hypoplasia of the maxilla, Pursed lips, Optic disc coloboma, Aglossia, ... OMIM:241310
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Robinow Syndrome
Low-set ears, Tooth malposition, Small nail, Ankyloglossia, Marked delay in eruption of permanent... ORPHA:97360
Kbg Syndrome
Long philtrum, Delayed skeletal maturation, Macrodontia, Thoracic kyphosis, Thick eyebrow, Tented... OMIM:148050
Wildervanck Syndrome
Pseudopapilledema, Hearing impairment, Fused cervical vertebrae OMIM:314600
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Pleural effusion ORPHA:411703
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Cardiomegaly, Ascites ORPHA:858
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Monocytopenia, Thrombocytopenia,... OMIM:226990
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Kyphosis, Hypoplasia of t... ORPHA:1798
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, S... ORPHA:79345
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microglossia, Microretrognathia, Conductive hearing impairment, Abnorm... ORPHA:1307
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Conductive hearing impairment, Abnormal form of the ver... ORPHA:93262
Qazi-Markouizos Syndrome
High, narrow palate, Small nail, Open mouth, Broad philtrum, EEG abnormality, Torticollis, Dyshar... ORPHA:3010
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Intrauterine growt... OMIM:619051
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Atresia of the external auditory canal, Sparse body hair, Supernumerary nipple, Sparse eyelashes,... OMIM:106260
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later... OMIM:150400
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Hypopigmented skin patches, Carpal synostosis, Tar... ORPHA:53271
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Carious teeth, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopo... OMIM:259710
Hypophosphatasia, Adult
Chondrocalcinosis, Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of p... OMIM:146300
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e... ORPHA:199241
Duane Retraction Syndrome
Wide nasal bridge, Blepharospasm, Irregular hyperpigmentation, Hearing impairment, Hypopigmented ... ORPHA:233
Alpha-Thalassemia
Generalized edema, Congestive heart failure, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ... ORPHA:846
Ataxia-Telangiectasia
Premature graying of hair, Lymphopenia, Type II diabetes mellitus, Tremor, Multiple cafe-au-lait ... ORPHA:100
Flynn-Aird Syndrome
Alopecia, Carious teeth, Progressive sensorineural hearing impairment, Joint stiffness, Type II d... ORPHA:2047
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Ohdo Syndrome
Wide nasal bridge, Sparse eyebrow, Hearing impairment, Long philtrum, Widely spaced teeth, Microg... OMIM:249620
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu... ORPHA:1811
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ... OMIM:259600
Alopecia Antibody Deficiency
Conductive hearing impairment, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormality o... ORPHA:1006
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Congenital hip dislocation, Hearing impairment, Spondylolisthesis, Joi... OMIM:229200
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla... OMIM:601455
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis OMIM:269920
Pycnodysostosis
Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Persistence of primary teeth, ... OMIM:265800
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... OMIM:613265
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Everted lower lip vermil... ORPHA:192
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Retrognathia, Hypertrichosis, Butterfly vertebrae, Submucous cleft hard palate, Low... OMIM:619227
Pde4D Haploinsufficiency Syndrome
Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Abnormal dental enamel morphology, ... ORPHA:439822
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Retrognathia, Small nail, Macrotia, Trichorrhexis nodosa, Concave nail, Nail dystr... OMIM:234050
Saethre-Chotzen Syndrome
Low-set ears, Hearing impairment, Prominent crus of helix, Open bite, Delayed cranial suture clos... ORPHA:794
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Macrotia ORPHA:93950
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hypopigmentation of hair, Ir... ORPHA:238468
Pseudohermaphroditism, Female, With Skeletal Anomalies
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation OMIM:264270
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Myositis, Raynaud phenomenon, Pericardial effusion, Edema ORPHA:93552
Myhre Syndrome
Low-set ears, Limitation of joint mobility, Hearing impairment, Enlarged vertebral pedicles, Narr... OMIM:139210
Arthrogryposis, Distal, Type 12
Low-set ears, Ankle flexion contracture, Dental crowding, Thoracic kyphosis, Knee flexion contrac... OMIM:620545
Orofacial Cleft 15
Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Bilateral cleft palate, Pro... OMIM:616788
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepat... OMIM:256550
Rubinstein-Taybi Syndrome 1
Low-set ears, Facial hypertrichosis, Hearing impairment, Delayed cranial suture closure, Microgna... OMIM:180849
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy... OMIM:214500
Acute Interstitial Pneumonia
Pericardial effusion, Peripheral edema, Hypertension, Pleural effusion ORPHA:79126
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Sensorineural hearing ... OMIM:601390
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Micrognathia, Thin nail, Accelerated bone age after puberty, Macrotia, Osteopenia,... OMIM:190350
Primary Intestinal Lymphangiectasia
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema ORPHA:90362
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Downturned corners of mouth, Lumbar hyperlordosis, Open mouth, Asymmetry of the ear... OMIM:617796
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Low-set ears, Hypoplasia of the maxilla, Hearing impairment, Long philtrum, Wrist hypermobility, ... ORPHA:481152
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... ORPHA:2885
Treacher-Collins Syndrome
Open bite, Abnormal hair morphology, Micrognathia, Narrow mouth, Absent eyelashes, High palate, B... ORPHA:861
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Thick eyebrow... ORPHA:228396
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Cockayne Syndrome A
Carious teeth, Dry hair, Limitation of joint mobility, Hip contracture, Delayed eruption of prima... OMIM:216400
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Wide mouth, Protruding ... ORPHA:98795
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Cervical spine hypermobility, Hypoplasia of the odo... OMIM:305400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow... OMIM:305100
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic thumbnail, Recurrent otitis media, Moderate hearing impairment, Hypoplastic toenails,... ORPHA:370010
Lelis Syndrome
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpig... ORPHA:140936
Histidinuria-Renal Tubular Defect Syndrome
Wide nasal bridge, Long philtrum, Hypoglycemia, Delayed skeletal maturation, Hypoplastic toenails... ORPHA:2158
Blepharo-Cheilo-Odontic Syndrome
Conical tooth, Carious teeth, Conductive hearing impairment, Bilateral cleft palate, Distichiasis... ORPHA:1997
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:77261
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow, Sensorineural hea... ORPHA:2662
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Hypotrichosis 8
Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar... OMIM:278150
Alkuraya-Kucinskas Syndrome
Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema OMIM:617822
Poikiloderma With Neutropenia
Sparse eyebrow, Carious teeth, Retrognathia, Long philtrum, Sparse lateral eyebrow, Recurrent oti... OMIM:604173
Van Maldergem Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Irregular dentition, Se... OMIM:615546
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Autoimmune th... OMIM:620565
Q Fever
Vasculitis, Abnormal heart valve morphology, Hepatosplenomegaly, Pleural effusion, Splenomegaly, ... ORPHA:781
Mucopolysaccharidosis, Type Iva
Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Short neck, A... OMIM:253000
Stapes Ankylosis With Broad Thumbs And Toes
Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 5th finger, Con... OMIM:184460
Crisponi/Cold-Induced Sweating Syndrome 1
Low-set ears, Carious teeth, Retrognathia, Long philtrum, Elbow flexion contracture, Micrognathia... OMIM:272430
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pleural effusion OMIM:613011
Thrombocytopenia-Absent Radius Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Sensorineural hearing impairment, Aplasia/Hypopl... ORPHA:3320
Cockayne Syndrome B
Carious teeth, Dry hair, Limitation of joint mobility, Abnormal hair morphology, Delayed eruption... OMIM:133540
Chops Syndrome
High, narrow palate, Optic atrophy, Coarse hair, Downturned corners of mouth, Long philtrum, Hear... OMIM:616368
Hermansky-Pudlak Syndrome 2
Low-set ears, Carious teeth, Periodontitis, Enlarged platelet dense granules, Recurrent otitis me... OMIM:608233
Poems Syndrome
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Hepatome... ORPHA:2905
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Kaposiform Lymphangiomatosis
Epistaxis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Pericardial effusion, Subconjuncti... ORPHA:464329
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Small nail, Supernumerary nipple, Short neck, Short nose, High, narrow... ORPHA:373
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG with abnormally slow frequencies, Iris hypopigmentation, Hypopigmentation of the skin, Widely... ORPHA:98794
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Dental crowding, Contractures of the large joints, Insulin-resistan... ORPHA:2457
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nasal bridge, Low-set ears, Hypoplasia of the maxilla, Sparse eyebrow, Cupped ear, Widow's peak OMIM:167730
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce... ORPHA:980
Elsahy-Waters Syndrome
Low-set ears, High palate, Increased cup-to-disc ratio, Hypoplasia of the maxilla, Impacted tooth... OMIM:211380
Hermansky-Pudlak Syndrome 3
Gingival bleeding, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Hyp... OMIM:614072
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Orofacial cleft,... ORPHA:3027
Frontometaphyseal Dysplasia
Joint contracture of the hand, Hearing impairment, Micrognathia, Sensorineural hearing impairment... ORPHA:1826
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Axenfeld-Rieger Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hypodontia, Everte... ORPHA:782
Orofaciodigital Syndrome Ii
Hypoplasia of the maxilla, Conductive hearing impairment, Lobulated tongue, Micrognathia, Malar f... OMIM:252100
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Nonimmune hydrops fetalis, Hepatomegaly, Flexion contracture, Pericardial effusio... OMIM:212065
Jalili Syndrome
Optic atrophy, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Amelogenes... ORPHA:1873
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Diabetes me... ORPHA:1215
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Vertebral wedging, Cleft upper lip, Kyphoscoliosis, Odontogenic keratocysts of... OMIM:109400
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, Retrognathia, Abnormal lip morphology, Macroti... ORPHA:171929
Axenfeld-Rieger Syndrome, Type 2
Wide nasal bridge, Hypoplasia of the maxilla, Hearing impairment, Microdontia, Hypodontia, Everte... OMIM:601499
Amelocerebrohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Abnormal dental enamel morphology, Amelogenesis imperfec... ORPHA:1946
Doors Syndrome
Low-set ears, Toenail dysplasia, Atresia of the external auditory canal, Short lingual frenulum, ... ORPHA:79500
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Recurrent... ORPHA:99772
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Micrognathia, Open mouth, Joint hypermo... OMIM:309520
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Delayed skeletal maturation, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Delayed skeletal maturation, Hyperinsulinemia, Hypoglycemic seizure... ORPHA:71526
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Craniometadiaphyseal Dysplasia
Low-set ears, Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, ... OMIM:269300
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Craniolenticulosutural Dysplasia
Carious teeth, Brittle hair, High palate, Sparse hair, Forehead hyperpigmentation, Osteopenia, Th... OMIM:607812
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Abnormal ... ORPHA:659
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardi... OMIM:615846
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Hearing impairment... ORPHA:582
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Hypoplasia of the maxilla, Dental crowding, Delayed skeletal maturation, Persistenc... OMIM:170390
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Retrognathia, Hypoglycemia, Hirsutism, Kyphoscoliosis, Neutropenia... OMIM:618005
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Abnormal hair whorl, Hearing impairment, ... OMIM:614261
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Aicardi Syndrome
Optic atrophy, Block vertebrae, Sparse lateral eyebrow, Optic disc coloboma, Cleft upper lip, But... ORPHA:50
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Squalene Synthase Deficiency
Low-set ears, Retrognathia, Elbow flexion contracture, Micrognathia, Abnormality of hair pigmenta... OMIM:618156
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Myopathy, Cardiomegaly, Left ve... OMIM:617713
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coarse hair, Conductive hearing impairme... ORPHA:2095
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Splenomegaly, Abscess, Joint swelling, Neutrophilia, Stomatitis, Osteo... OMIM:612852
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
CantĂș Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Pat... ORPHA:1517
Cornelia De Lange Syndrome 6