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Gene: Setd5 MGI:1920145

Gene Summary

Name:

SET domain containing 5

Synonyms:

2900045N06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal snout morphology	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	8.23×10^-11
abnormal maxilla morphology	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.47×10^-07
abnormal incisor morphology	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.43×10^-06
increased monocyte cell number	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00
absent pinna reflex	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	9.77×10^-06
increased regulatory T cell number	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Setd5^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal tooth morphology	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.90×10^-06
vertebral fusion	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.92×10^-05
decreased circulating glucose level	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.00×10^-05
abnormal cranium morphology	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	6.16×10^-10
decreased grip strength	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.49×10^-05
abnormal coat/hair pigmentation	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.66×10^-09
abnormal auditory brainstem response	Setd5^{tm1a(EUCOMM)Wtsi}	HET	Early adult	2.13×10^-07

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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

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images

Setd5^{tm1a(EUCOMM)Wtsi}
HET, Male, WTSI

Setd5^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

View all 268 images

Setd5^{tm1a(EUCOMM)Wtsi}
mydriasis, HET, Male, WTSI

Setd5^{tm1a(EUCOMM)Wtsi}
abnormal placement of pupils, mydriasis, HET, Female, WTSI

Setd5^{tm1a(EUCOMM)Wtsi}
head, abnormal snout morphology, WT, Male, WTSI

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.

Human diseases associated with Setd5 (2 diseases)
Human diseases predicted to be associated with Setd5 (735 diseases)

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		Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ...	OMIM:615761
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency		Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Low anter...	ORPHA:404440

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition, Anonychia, Aplastic/hypoplastic toenail	ORPHA:1094
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Filippi Syndrome	Optic atrophy, Wide nasal bridge, Serrated incisors, Thin vermilion border, Short philtrum, Hypod...	OMIM:272440
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Amelogenesis imper...	OMIM:601216
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Abn...	ORPHA:2332
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, Polyarticular arthritis, B lymphocytopenia, Recurrent si...	OMIM:619281
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr...	OMIM:619719
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Wide nasal bridge, Gingival overgrowth, Downturned...	OMIM:618729
Rubinstein-Taybi Syndrome 2	Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsuti...	OMIM:613684
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Intrauterine growth retardatio...	OMIM:614702
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo...	OMIM:115197
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc...	ORPHA:3352
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ...	OMIM:239850
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ...	ORPHA:486
Aarskog-Scott Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of f...	ORPHA:915
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ethanolaminosis	Cardiomegaly	OMIM:227150
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Optic atrophy, Talo...	OMIM:605282
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Anonychia, Delayed ...	OMIM:113000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Hearing impairment, Elbow dislocation, Limitation of joint mobili...	ORPHA:90650
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai...	ORPHA:2325
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermil...	OMIM:300602
Klippel-Feil Syndrome 2, Autosomal Recessive	Abnormal pinna morphology, Short neck, Cleft upper lip, Sensorineural hearing impairment, Cleft p...	OMIM:214300
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Carious teeth, Hemivertebrae, Wide nasal bridge, Vertebr...	ORPHA:377
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Bone spicule pigmentation of the retina, Thick eyebrow,...	OMIM:216550
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Posteriorly rotated ears, Cleft palate, Thin vermilion border, Long eyelashes, Low...	OMIM:615502
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Optic nerve hypoplasia, Short neck, Hem...	OMIM:615583
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit...	ORPHA:2228
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy, Sco...	OMIM:601382
Nephrosialidosis	Pericardial effusion, Ascites	OMIM:256150
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To...	ORPHA:1248
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Cleft palate, Low posterior hairline, Abnormal cranial ne...	ORPHA:2345
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Sparse eyelashes, Dental crowding, Micrognathia,...	OMIM:257850
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morph...	ORPHA:1355
Split-Hand/Foot Malformation 3	Ridged nail, Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mout...	OMIM:246560
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Pericardial effusion, Enlarged kidney	OMIM:613885
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Horner syndro...	OMIM:141300
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha...	ORPHA:894
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Abnormal dental morphology, Alveola...	ORPHA:2972
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,...	OMIM:616549
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hai...	ORPHA:96169
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventri...	OMIM:252011
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrotia, Maxi...	ORPHA:1193
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of teeth, Platyspon...	OMIM:156510
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila...	ORPHA:2041
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ...	ORPHA:90653
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Low-set, posteriorly rotated ears, Micrognathia, Open bite, Kyphosis, Car...	ORPHA:2617
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	OMIM:218000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, High anterior hairline, Notched primary central incisor, Low-set ears	OMIM:620062
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Glucose intolerance, Scolio...	OMIM:309620
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb...	OMIM:178110
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Delay...	ORPHA:2409
Trisomy 4P	Low-set, posteriorly rotated ears, Smooth philtrum, Camptodactyly of finger, Abnormal hair patter...	ORPHA:1738
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Optic atrophy, P...	OMIM:618737
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Craniolenticulosutural Dysplasia	Smooth philtrum, Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teet...	ORPHA:50814
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ...	ORPHA:2522
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo...	OMIM:136300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Syn...	OMIM:213980
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab...	ORPHA:860
Otodental Syndrome	High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Abnormal dental ename...	ORPHA:2791
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t...	ORPHA:248
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h...	ORPHA:1529
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Cleft palate, Low posteri...	OMIM:118100
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis, Osteoporosis, Lo...	ORPHA:48431
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Abnormality of retinal pigmentation, Mixed hearing impairment, Block vertebrae,...	OMIM:272460
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology...	OMIM:608776
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Protruding ear, Broad eyebrow	OMIM:618302
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,...	OMIM:129400
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin...	OMIM:600501
8Q22.1 Microdeletion Syndrome	Sparse eyelashes, Camptodactyly of finger, Craniosynostosis, Short neck, Highly arched eyebrow, S...	ORPHA:178303
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte...	OMIM:244600
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Facial palsy, Hyperlordosis, Kyphosis, Achilles tendon contr...	OMIM:606612
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Protruding ear, Iron deficiency anemia, High palate, Ab...	ORPHA:93315
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Posteriorly rotated ears, Dental crowding, Short neck, Abnorma...	OMIM:130720
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormal intervertebral disk morphology, Ab...	ORPHA:2701
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla...	ORPHA:763
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog...	ORPHA:1897
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Deep philtrum, Everted lower li...	OMIM:137550
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Kyphosis, Narrow palate, ...	ORPHA:364028
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Alopecia, Generalized hypoplasia of dental enamel, Carious teeth, Flexio...	OMIM:203550
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr...	OMIM:610706
Diaphanospondylodysostosis	Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ...	ORPHA:66637
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Thick vermilion border, Macrodontia of permanent maxillary central ...	OMIM:620114
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, Delayed skeletal...	OMIM:608154
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal denta...	ORPHA:3019
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Wide nasa...	OMIM:136760
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Wide nasal bri...	ORPHA:2412
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, External ear ...	ORPHA:438216
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ...	ORPHA:1028
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperinsuli...	OMIM:262190
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Type II diabetes mellitus, Scoliosis, Thora...	ORPHA:1436
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion	OMIM:614684
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxilla, Osteolysis i...	OMIM:166300
Shashi-Pena Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Hypoglycemia, Highly arched eyebrow, Accelera...	OMIM:617190
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Hyperlordosis, Abnormality of hair texture, Micrognathia, Synophrys, Ab...	ORPHA:73223
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Protruding ear, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia...	ORPHA:3253
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth...	OMIM:620135
Waardenburg Syndrome, Type 3	Mandibular prognathia, Partial albinism, Camptodactyly of finger, Aganglionic megacolon, Synophry...	OMIM:148820
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Frontal balding, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Ma...	ORPHA:93945
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Absent eyelas...	OMIM:106260
Ellis Van Creveld Syndrome	Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal oral ...	ORPHA:289
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Smooth philtrum, Delayed eruption of teeth, Narrow mouth, Delayed skeletal maturation, Sensorineu...	OMIM:235510
Mosaic Trisomy 20	Vertebral fusion, Hearing impairment, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, D...	ORPHA:1724
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, EEG abnormality, Scoliosis, Multiple cafe-au-lait spots, Thoracic hemiv...	ORPHA:1445
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he...	OMIM:268310
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Intra...	OMIM:618775
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th...	ORPHA:2786
Atelosteogenesis, Type Iii	Cervical segmentation defect, Cervical kyphosis, Short neck, Elbow dislocation, Micrognathia, Hyp...	OMIM:108721
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sensorineural hearing impairment,...	OMIM:109120
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Diabetes mellitus, Blue irides, Advanced ossification of carpal bones, Spi...	OMIM:614613
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying...	ORPHA:33445
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:776
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o...	OMIM:614753
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Sm...	ORPHA:36412
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Carious teeth, Kyphosis, Sensorineural hearing impairment,...	ORPHA:1883
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects...	OMIM:620070
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Edema, Portal hypertension, Pericardial effusion, Hepatosplenomegaly,...	OMIM:619487
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De...	ORPHA:485
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition	ORPHA:2776
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o...	OMIM:135100
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Low-set...	OMIM:617333
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial pals...	ORPHA:53
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Ventricular se...	ORPHA:26793
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Accelerated skeletal maturation, Hypoplasia of ...	ORPHA:950
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops...	OMIM:253250
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Posteriorly rotated ears, Trismus, Widow's peak, Deep philtrum, Hyperextensible...	OMIM:227330
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Microtia, Long philtrum, Thickened he...	ORPHA:261295
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Macrotia	OMIM:302350
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Abnormality ...	ORPHA:193
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Hypoplasia of the maxilla, Protruding ear, Patchy alopecia, High palate,...	ORPHA:85279
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Anodontia, S...	ORPHA:90652
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae	OMIM:122600
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Overfolded helix...	ORPHA:79113
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa...	ORPHA:615
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Limited elbow movement, Craniosynostosis, Highly arche...	OMIM:265050
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia	OMIM:601809
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Irregular dentition, Abnormal auditory evoked potentials, Dela...	OMIM:619260
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Abnormal antiheli...	ORPHA:3145
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa...	OMIM:619167
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Short neck, Sparse eyebrow, Micrognathia, Delayed skeletal maturation, De...	ORPHA:444072
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa...	OMIM:193510
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba...	ORPHA:2884
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Wildervanck Syndrome	Facial palsy, Short neck, Congenital sensorineural hearing impairment, Low posterior hairline, Fu...	ORPHA:3456
Larsen Syndrome	Cervical kyphosis, Knee dislocation, Conductive hearing impairment, Spina bifida occulta, Hypopla...	OMIM:150250
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Iris hypopigmentation, Vertebral fusion, Promi...	OMIM:610443
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Protruding ear, Sparse hair, Microdontia...	OMIM:190350
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Sensorineural hearing impairment, Knee os...	OMIM:154780
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Gaucher Disease Type 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pedal edema, Growth delay, Pulmonary arterial h...	ORPHA:77259
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat...	OMIM:608612
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Nablus Mask-Like Facial Syndrome	Short neck, Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Small ear...	OMIM:608156
Cerebellofaciodental Syndrome	Short neck, Sparse eyebrow, Delayed skeletal maturation, Dental malocclusion, Genu valgum, Fine h...	OMIM:616202
Marshall Syndrome	Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Osteoarthritis, Sensor...	ORPHA:560
Orofaciodigital Syndrome Type 2	Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Hamartoma of tongue, Ta...	ORPHA:2751
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Low posterior h...	OMIM:617523
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Wide mouth, EEG abnormality, Hypopigmentation of...	ORPHA:411515
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Narrow internal auditory canal, Short nec...	ORPHA:233
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Decreased number of sweat gland...	ORPHA:69087
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Hypermelanoti...	ORPHA:90321
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Micrognathia, Synophrys, Thoracic kyphosis, Short philtrum, Wide nasal bridge, Hypopl...	OMIM:620250
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal dental enamel morphology, Craniosynostosis, Abnormality ...	ORPHA:1515
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Fragile nails, Premature loss of teeth, Reticular hyperpigmentation	OMIM:161000
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Small earlobe, Tented upper lip vermilion, Exaggerated cupid's bow, Abno...	ORPHA:364577
Lamb-Shaffer Syndrome	Micrognathia, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Thick vermilion border,...	ORPHA:530983
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of...	OMIM:620157
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Sensorineural hearing impairment, Hypopigmented ...	ORPHA:895
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Limb tremor, Wi...	OMIM:105830
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon...	ORPHA:391408
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Pericardial effusion, Cardiomyopathy, Skeletal muscle atrophy	OMIM:620089
Monosomy 18P	Alopecia, Generalized dystonia, Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Wide nas...	ORPHA:1598
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme...	ORPHA:52368
Nager Syndrome	Low-set, posteriorly rotated ears, Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypopla...	ORPHA:245
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval	ORPHA:231111
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus...	ORPHA:3220
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Hearing impairment	OMIM:314600
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte...	OMIM:241310
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog...	OMIM:231070
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Prominence of the premaxilla, Smooth philtrum, Dental crowding, H...	OMIM:620370
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis	OMIM:300676
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Macrodontia of permanent maxillary central incisor...	ORPHA:466722
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Crouzon Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Hypopigmented skin patches,...	ORPHA:207
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri...	ORPHA:57777
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu...	ORPHA:3214
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis	OMIM:607155
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Microretrognathia, Tarsal synostosis, Hypoplasia of the maxill...	ORPHA:1307
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Posteriorly rotated ears, Macrodontia, Short neck, ...	OMIM:148050
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytope...	OMIM:226990
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Persiste...	ORPHA:97360
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p...	OMIM:619142
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb...	ORPHA:93262
Congenital Toxoplasmosis	Hepatomegaly, Intrauterine growth retardation, Ascites, Cardiomegaly	ORPHA:858
Qazi-Markouizos Syndrome	Dysharmonic bone age, Torticollis, High, narrow palate, Hypoplasia of teeth, EEG abnormality, Del...	ORPHA:3010
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Ohdo Syndrome	Joint laxity, Micrognathia, Sparse eyebrow, Wide nasal bridge, Hypoplasia of teeth, Long philtrum...	OMIM:249620
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph...	ORPHA:1798
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, High, narrow palate, Sensorin...	ORPHA:53271
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion	ORPHA:411703
Flynn-Aird Syndrome	Alopecia, Joint stiffness, Carious teeth, Kyphosis, EEG abnormality, Type II diabetes mellitus, S...	ORPHA:2047
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Microt...	OMIM:171480
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Tremor, Premature graying of hair, Type II diabetes ...	ORPHA:100
Alopecia Antibody Deficiency	Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Conductive hearing impairm...	ORPHA:1006
Odontomicronychial Dysplasia	Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee...	ORPHA:1811
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Optic atrophy, Retrogn...	OMIM:234050
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Pycnodysostosis	Ridged nail, Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruptio...	OMIM:265800
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur...	OMIM:180849
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e...	ORPHA:199241
Pde4D Haploinsufficiency Syndrome	Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal...	ORPHA:439822
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Abnormal form of the vertebral bodies, Conducti...	ORPHA:794
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Hyperconvex fin...	ORPHA:192
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Sensorineural hearing impairment, Blue iri...	OMIM:613265
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Macrotia	ORPHA:93950
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites	OMIM:269920
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Thoracic scoliosis, Thrombocytopenia, Sensorineura...	ORPHA:79330
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Retrognathia, Low posterior hairline, Fused cervical vertebrae, Cafe...	OMIM:619227
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Decreased nerve conduction v...	OMIM:214500
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Hearing impairment, Scoliosis, Red hair, Dentinogenesis...	OMIM:229200
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Carpenter Syndrome 1	Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairment, ...	OMIM:201000
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia, Hypoplastic toenails, Delayed skeletal maturation, Sensorineural hearing impairment...	ORPHA:2158
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Asymmetry of the ears, Synophrys, Sensorineural hearing impairment, Low ant...	OMIM:617796
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:601390
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgi...	OMIM:212140
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Short stature, Cardiomegaly, Facial edema, Splenomegaly, H...	OMIM:256550
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema	ORPHA:79126
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t...	ORPHA:861
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Pleural effusion, Ascites	ORPHA:93552
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Abnormal pinna morphology, Posteriorly rotated ears, Highly arched eyebrow, Ab...	ORPHA:228396
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Hyp...	OMIM:305400
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Thoracic kyphoscoliosis, Broad eyebrow, Hypoplasia of the maxilla, Flexion contr...	ORPHA:481152
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ...	ORPHA:238468
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Microdon...	OMIM:305100
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, EEG with focal epileptiform d...	ORPHA:98795
Lymphoproliferative Syndrome 1	Pericardial effusion, Hepatomegaly, Pleural effusion, Splenomegaly	OMIM:613011
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Sparse hair, Verteb...	OMIM:139210
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Long nose, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th fi...	OMIM:184460
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Growth delay, Pleural effusion, Ascites, Generalized edema	ORPHA:90362
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card...	OMIM:300280
Keipert Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Sensorineural hea...	ORPHA:2662
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, ...	ORPHA:77261
Laron Syndrome	Delayed eruption of teeth, Hypoglycemia, Micrognathia, Delayed skeletal maturation, Osteoarthriti...	ORPHA:633
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural effusion	OMIM:617822
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra...	OMIM:613686
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi...	OMIM:615546
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors	ORPHA:397973
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ...	OMIM:606842
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Crisponi/Cold-Induced Sweating Syndrome 1	Facial palsy, Kyphoscoliosis, Short neck, Micrognathia, Narrow mouth, Carious teeth, Trismus, Elb...	OMIM:272430
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive ...	ORPHA:1997
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Mandibular prognathia, Hypopigmentation of hair, EEG with abnor...	ORPHA:98794
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Accelerated skeletal maturation, Short neck, H...	ORPHA:373
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the patella, Micrognathia, Sensorineural...	ORPHA:3320
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Chops Syndrome	Curly hair, Thick hair, Thickened helices, Splenomegaly, Synophrys, High, narrow palate, Optic at...	OMIM:616368
Squalene Synthase Deficiency	Posteriorly rotated ears, Optic nerve hypoplasia, Micrognathia, Elbow flexion contracture, Abnorm...	OMIM:618156
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Hypoplasia of the maxilla, Widow's peak, Cupped ear, Wide nasal bridge, Low-set ears	OMIM:167730
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct...	OMIM:601455
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Insulin resistance, Insulin-...	ORPHA:2457
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Hypoplastic thumbnail, Hypoplastic toenails, Moderate hearing impairmen...	ORPHA:370010
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Oligodontia, Conductive hearing impairment, Spina bifida oc...	ORPHA:1826
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Subconjun...	ORPHA:464329
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormalit...	OMIM:216400
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Caudal Regression Syndrome	Maternal diabetes, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplasti...	ORPHA:3027
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology...	ORPHA:980
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Conductive he...	OMIM:252100
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Hypoglycemia, Micrognathia, Congenital sensorineural hearing impairmen...	ORPHA:73272
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel...	ORPHA:140936
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Decreased CD4:CD8 ratio, Wi...	OMIM:608233
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge, Short philtrum, Everted lowe...	OMIM:601499
Trisomy 10P	Wide cranial sutures, Posteriorly rotated ears, Abnormal auditory evoked potentials, Micrognathia...	ORPHA:171929
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigmentation of the skin, Abnormal num...	OMIM:614072
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Low anterior hairline, Downturned corners of mouth, Widely...	ORPHA:79500
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Hirsutism, High pal...	OMIM:618005
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, EEG abnormality, Yellow-brown dis...	ORPHA:1946
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,...	OMIM:309520
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Bifid uvula, Supernumer...	OMIM:211380
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodontia, Microdonti...	ORPHA:782
Poikiloderma With Neutropenia	Joint laxity, Joint stiffness, Sparse eyebrow, Splenomegaly, Micrognathia, Carious teeth, Reticul...	OMIM:604173
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef...	OMIM:109400
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Genu...	OMIM:269300
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Tremor, Ivory epiphyses of the phalanges of the hand, Abnormalit...	OMIM:133540
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Flexion contr...	OMIM:212065
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath...	OMIM:235200
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Pleural effusion, Ascites, Viscerom...	ORPHA:2905
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi...	OMIM:253000
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Abnormal hair whorl, Optic atrophy, Cleft palate, Low-set ears, Small ...	OMIM:614261
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp...	OMIM:170390
Obesity Due To Prohormone Convertase I Deficiency	Delayed skeletal maturation, Hyperinsulinemia, Hypoglycemic seizures, Red hair, Hypopigmentation ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed skeletal maturation, Hyperinsulinemia, Hypoglycemic seizures, Red hair, Hypopigmentation ...	ORPHA:71526
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Wide ...	OMIM:607812
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coarse hair, Olig...	ORPHA:2095
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vertebrae, Cleft upper l...	ORPHA:50
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Synophrys, Wide nas...	ORPHA:3440
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert...	ORPHA:1517
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventricular hypertroph...	OMIM:617713
Mucopolysaccharidosis Type 4	Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye...	ORPHA:582
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Edema, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hematochezia, H...	OMIM:615846
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Hyperconvex fingernails, Do...	OMIM:194190
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Aymé-Gripp Syndrome	Pericarditis, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Postnatal gro...	ORPHA:1272
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti...	ORPHA:3240
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Osteolysis, Fused cervical verteb...	OMIM:612852
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Familial Aortic Dissection	Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele...	OMIM:602535
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Patellar a...	OMIM:613804
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hearing impairment, Accelerated skeletal matura...	OMIM:101800
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Recurrent fractures, Hyperextensibility of the knee, Micrognathia, Hyp...	OMIM:601812
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric...	ORPHA:99827
Pfeiffer Syndrome	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, High ...	OMIM:101600
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Microretrognathia, Abnormal hair pattern, Abnormality of the d...	ORPHA:1786
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Protruding ear, Hyperconvex fingernails, Coarse hair, Widely spaced ...	ORPHA:1071
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin...	ORPHA:87
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Posteriorly rotated ears, Micrognathia, A...	OMIM:212720
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Classical-Like Ehlers-Danlos Syndrome Type 2	Pericardial effusion, Umbilical hernia, Mitral valve prolapse	ORPHA:536532
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Carious teeth, Osteoporosis, Platyspon...	OMIM:126550
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o...	ORPHA:1452
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Nail pits,...	OMIM:127550
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypopl...	ORPHA:79328
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema...	OMIM:248370
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Hypoplasia of the...	OMIM:300534
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Opt...	OMIM:123500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
W Syndrome	Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormalit...	ORPHA:2804
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Cleft Velum	Conductive hearing impairment, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft sof...	ORPHA:99772
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a...	ORPHA:1215
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu...	ORPHA:96191
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion contracture, Micro...	OMIM:608149
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, EEG abnormality, ...	ORPHA:411511
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Sparse eyelashes...	OMIM:224230
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Ab...	ORPHA:508498
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion, Ascites	OMIM:618183
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Low anterior hairline, High palate,...	OMIM:617137
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Hyperlord...	ORPHA:3353
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope...	OMIM:259700
Momo Syndrome	Delayed eruption of teeth, Underfolded helix, Hyperconvex nail, Short neck, Delayed skeletal matu...	OMIM:157980
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Orofaciodigital Syndrome Xix	Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio...	OMIM:620107
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Mi...	ORPHA:293939
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Ge...	OMIM:620099
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615108
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr...	OMIM:612843
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig...	OMIM:224690
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Synophrys, Low anterior hairline, Protrudin...	OMIM:613458
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set,...	ORPHA:363611
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:158350
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Synophrys, Downtu...	ORPHA:1299
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut...	ORPHA:221016
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Neutropenia, Conductive hearing imp...	OMIM:609053
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, White eyelashes, Partial albinism, White eyebrow, Congeni...	OMIM:193500
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Sensorineural hearing impairment, Limitation of joint mobility, Ocular ...	ORPHA:2719
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia...	OMIM:164200
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Conduct...	ORPHA:2710
Obesity And Hypopigmentation	Red hair, Hyperinsulinemia	OMIM:620195
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg...	OMIM:609136
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca...	ORPHA:2769
Cartilage-Hair Hypoplasia	Joint laxity, Lymphopenia, Macrocytic anemia, Lumbar hyperlordosis, Impaired lymphocyte transform...	OMIM:250250
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Hypoplasia of the maxilla, Sensorineural hearing imp...	ORPHA:96129
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Highly arched eyebrow, Short neck, Hypoplasia of the maxilla, Synophrys, W...	OMIM:609460
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Limb muscle weakness, Cardiomyopathy, Arrhythmia	OMIM:266500
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond...	ORPHA:101085
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f...	ORPHA:828
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera...	ORPHA:2221
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Micrognathia, Open bite, Widow's pe...	ORPHA:1974
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, At...	OMIM:306955
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy, Exaggerated sta...	OMIM:616881
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro...	OMIM:615109
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Sudden cardiac death, Cardiomegaly, Hepatocellular...	OMIM:201475
Frontorhiny	Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of t...	ORPHA:391474
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme...	OMIM:101200
Say-Barber-Miller Syndrome	Micrognathia, Patellar hypoplasia, Knee flexion contracture, Abnormal T cell morphology, Protrudi...	ORPHA:3132
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Reticulated skin pigmentation, Osteo...	OMIM:613989
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Genu recurvatum, Posteriorly rotated ears, Craniosynostosis, Abnormal p...	OMIM:182212
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Multifocal epileptiform discharges, EEG with abno...	ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly	OMIM:618838
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati...	OMIM:108720
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Delayed skel...	OMIM:613805
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Small earlob...	OMIM:616268
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature...	OMIM:616353
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Dental crowding, Carious teeth, Avascular necrosis of the capital femo...	ORPHA:353281
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Abnormality of the hairline, Wide nasal bridge, Delayed closure of ...	OMIM:614886
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ...	ORPHA:1106
7Q31 Microdeletion Syndrome	Torticollis, Hypoplasia of the maxilla, Delayed skeletal maturation, Hypoplasia of the cochlea, W...	ORPHA:251061
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Short nose, Sensorineural hearing impairment	OMIM:122880
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia	ORPHA:42
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Cardiomyopathy, Hypovolemic shock, Camptodactyly...	ORPHA:158687
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Hypermelanotic macule, Short neck, Thrombocytopenia...	ORPHA:1830
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Sparse axillary hair, A...	OMIM:613803
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl...	ORPHA:2136
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir...	ORPHA:2554
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Optic disc coloboma, Hemivertebra...	OMIM:304050
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impa...	ORPHA:314679
Gitelman Syndrome	Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyolysis, Delayed puberty,...	ORPHA:358
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul...	ORPHA:73224
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Chédiak-Higashi Syndrome	Epistaxis, Edema, Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Pleural effusion	ORPHA:167
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Short stature, Cardiomegaly, Sp...	OMIM:602782
Arnold-Chiari Malformation Type I	Stiff neck, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t...	ORPHA:268882
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E...	ORPHA:199302
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Sparse pubic hair, Hypoplasia of the maxilla, Breast aplasia, Type I diabe...	ORPHA:3044
Shprintzen-Goldberg Syndrome	Osteopenia, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Joint stiffness,...	ORPHA:2462
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Pulmonary arterial hyper...	OMIM:613320
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr...	OMIM:600920
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly	ORPHA:3137
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ...	OMIM:604292
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Ablepharon Macrostomia Syndrome	Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Hypoplasia of t...	ORPHA:920
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil...	OMIM:261540
Sifrim-Hitz-Weiss Syndrome	Cupped ear, Flat acetabular roof, Fused cervical vertebrae, Low-set ears, Wormian bones, Bifid uv...	OMIM:617159
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Retrognathia, Cleft palate, Anotia, Microtia, Acetabular...	OMIM:616462
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin...	ORPHA:3322
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Contracture of the distal interphalangeal joint of the fi...	ORPHA:83617
Holoprosencephaly 9	Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla,...	OMIM:610829
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Craniosyno...	OMIM:166250
Vici Syndrome	Hypopigmentation of hair, Median cleft lip, Everted upper lip vermilion, Albinism, Micrognathia, ...	OMIM:242840
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly	ORPHA:99931
Brittle Cornea Syndrome	Abnormality of the dentition, Sensorineural hearing impairment, Osteoporosis, Abnormality of hair...	ORPHA:90354
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Hypopigm...	ORPHA:221008
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Resting tremor, Ab...	ORPHA:909
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten...	ORPHA:308552
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners...	OMIM:617140
Prader-Willi Syndrome Due To Translocation	Short neck, Micrognathia, Downturned corners of mouth, High palate, Hypopigmentation of the skin,...	ORPHA:177907
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Cranial nerve compression, ...	OMIM:131300
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Short stature, Sudden cardiac death, Cardio...	OMIM:614921
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Increase...	OMIM:617022
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive ...	ORPHA:465508
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Conductiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Conductiv...	ORPHA:353277
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Chromosome 8Q22.1 Duplication Syndrome	Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo...	OMIM:151200
Bloom Syndrome	Elevated hemoglobin A1c, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Protrudi...	OMIM:210900
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Edema, Cardiomegaly, Pericardial effusion, Po...	ORPHA:51608
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Conduc...	OMIM:129900
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub...	ORPHA:2588
Mend Syndrome	Sacral dimple, Abnormal auditory evoked potentials, Micrognathia, Asymmetry of the mouth, Kyphosi...	ORPHA:401973
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Sensorineural hearing impairment, ...	OMIM:206900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Cardiomegaly, Myelopathy, S...	OMIM:252500
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatospleno...	OMIM:608013
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Pterygium, Absent eyebr...	OMIM:263650
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone...	OMIM:259050
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment	OMIM:620192
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Greenberg Dysplasia	Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi...	OMIM:215140
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:91387
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hyp...	ORPHA:306542
Nasopalpebral Lipoma-Coloboma Syndrome	Abnormal eyelash morphology, Abnormality of cartilage of external ear, Widow's peak, Sparse eyebr...	ORPHA:2399
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Umbilical hernia, Arthrogr...	OMIM:618143
Thakker-Donnai Syndrome	Posteriorly rotated ears, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow mouth, C...	ORPHA:1780
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Septo-optic dysplasia, Uplifted earlobe, Micrognathia, Synophrys, Low ante...	OMIM:619841
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, 4-5 metacarpal synostosi...	OMIM:268305
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Chylopericardium, Chylothorax, Ascites	ORPHA:538
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Micrognathia, Thrombocytopenia, Leukocytosis, Patellar aplasia, Hip dislocation, Cl...	OMIM:274000
Cardiospondylocarpofacial Syndrome	Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Delayed...	OMIM:157800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigmentation of the...	OMIM:618541
Prader-Willi Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Carious teeth, Kyphosis, Osteopor...	OMIM:176270
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Chand Syndrome	Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi...	ORPHA:1401
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Cardiomegaly	OMIM:618886
Acro-Renal-Ocular Syndrome	Vertebral fusion, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc coloboma, V...	ORPHA:959
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Papilledema, Prominent metopic ridge, Stapes ankylosis, Dental crowding, A...	OMIM:614188
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy...	OMIM:300855
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased...	OMIM:608836
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly	OMIM:619259
Acute Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Mi...	ORPHA:565
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Pleural effusion	OMIM:181000
Classic Phenylketonuria	Tremor, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leu...	OMIM:619488
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M...	ORPHA:79430
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Craniofacial Microsomia 1	Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conductive hearing impairment, Du...	OMIM:164210
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Smith-Lemli-Opitz Syndrome	Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced eruption of teeth, Low-...	ORPHA:818
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Spinal canal stenosis, Narrow p...	OMIM:277600
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Splenomegaly, Senso...	ORPHA:163746
Saethre-Chotzen Syndrome	Long nose, Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Low anterior hairli...	OMIM:101400
Carney Complex, Type 1	Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Renal tubular epithelial necrosis, Cardiomyopathy, Abnor...	ORPHA:228308
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma...	ORPHA:96334
Duane-Radial Ray Syndrome	Aganglionic megacolon, Facial palsy, Sensorineural hearing impairment, Fused cervical vertebrae, ...	OMIM:607323
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Splenomegaly, Flexion contracture, At...	ORPHA:581
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Joint stiffness, Hypoplasia of the maxilla, Delayed skeletal maturation, El...	OMIM:608328
Aspartylglucosaminuria	Mandibular prognathia, Joint stiffness, Abnormality of the dentition, Splenomegaly, Delayed skele...	ORPHA:93
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Singleton-Merten Syndrome 1	Osteopenia, Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Ca...	OMIM:182250
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Facial hypotonia, Glycogen accumulation in muscle fiber ...	ORPHA:365
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil...	ORPHA:500150
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ...	OMIM:245600
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair...	ORPHA:84064
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ...	OMIM:615761
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Osteoporosis, Downturned corners ...	ORPHA:398079
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ...	OMIM:149730
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, High, narrow palate, S...	ORPHA:1101
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly	ORPHA:349
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Kyphosis, Flexion contracture, Os...	ORPHA:398069
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o...	ORPHA:2673
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Abnormality of the dentition, Osteoporos...	ORPHA:739
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Bohring-Opitz Syndrome	Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Congenital co...	ORPHA:97297
Floating-Harbor Syndrome	Enlarged joints, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:2044
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu...	ORPHA:2463
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla, Dislocated radial head	ORPHA:2975
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Dental crowding, Kyphoscoliosis, Hypoplasia of the maxilla, ...	OMIM:617402
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Liver Disease, Severe Congenital	Hepatomegaly, Pulmonary edema, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, ...	OMIM:619991
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Polyhydramnios, Cardiomegaly, Congenital diaphragmatic hernia, Lar...	ORPHA:116
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hypoglycemic seizures	OMIM:609734
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, ...	ORPHA:177901
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia	OMIM:230000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Downturned corners of mout...	ORPHA:98754
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly	OMIM:603903
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr...	OMIM:180500
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Downturned corners of mout...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Osteoporosis, Downturned corners of mout...	ORPHA:177904
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Abnormal pinna morphology, Micrognathia, High palate, Low-set ears,...	OMIM:614437
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe...	ORPHA:904
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Unil...	OMIM:610828
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela...	ORPHA:79280
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process...	OMIM:300106
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Hepatocellular necrosis	OMIM:618278
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Distal lower limb muscle weakness	ORPHA:14
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Cardiomegaly, Sple...	OMIM:256040
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Cardiomegaly, Raynaud phenomenon, Hepatospl...	ORPHA:51
Yunis-Varon Syndrome	Ventricular septal defect, Short stature, Polyhydramnios, Cardiomegaly, Postnatal growth retardat...	ORPHA:3472
Beckwith-Wiedemann Syndrome	Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia...	OMIM:130650
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Angina pectoris, Lymphedema, Pericardial effusion, Int...	ORPHA:79318
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,...	ORPHA:391665
Cystinosis, Nephropathic	Hypopigmentation of hair, Diabetes mellitus, Splenomegaly, Delayed skeletal maturation, Retinal p...	OMIM:219800
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Abnormal pinna morphology, Aganglionic megacolon, Kyphoscoliosis, Dental cr...	OMIM:309800
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Kyphosis, Deep philtrum, Low anter...	ORPHA:404440
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Scoliosis...	OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Setd5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Setd5.

There are 12 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research.	Molecular psychiatry (March 2023)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC10575785
Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.	Frontiers in genetics (January 2022)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC9846138
Setd5 is required in cardiopharyngeal mesoderm for heart development and its haploinsufficiency is associated with outflow tract defects in mouse.	Genesis (New York, N.Y. : 2000) (May 2021)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC8564859
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC7263671
The Autism-Related Protein SETD5 Controls Neural Cell Proliferation through Epigenetic Regulation of rDNA Expression.	iScience (April 2020)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC7160574
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC7338221
SETD5 Regulates Chromatin Methylation State and Preserves Global Transcriptional Fidelity during Brain Development and Neuronal Wiring.	Neuron (September 2019)	Setd5^{tm1a(EUCOMM)Wtsi}	31515109
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC6459510
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.	Nature neuroscience (November 2018)	Setd5^{tm1a(EUCOMM)Wtsi}	30455454
miR-126-5p promotes retinal endothelial cell survival through SetD5 regulation in neurons.	Development (Cambridge, England) (January 2018)	Setd5^{tm1a(EUCOMM)Wtsi}	29180574
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Setd5^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Setd5^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Setd5^{tm39685(L1L2_st2)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Setd5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Setd5^{tm39685(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Setd5 MGI:1920145

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

X-ray

DSS Histology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Setd5 mutations

Histopathology

IMPC related publications

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