Gene: Mmp14 MGI:101900

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

matrix metallopeptidase 14 (membrane-inserted)

Synonyms:

sabe, MT1-MMP, Membrane type 1-MMP

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mmp14 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 Mmp14 (2 diseases)
Human diseases predicted to be associated with Mmp14 (3294 diseases)

The table below shows human diseases associated to Mmp14 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Winchester Syndrome		Arthropathy, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the fee...	OMIM:277950
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum		Broad metacarpals, Abnormality of the orbital region, Hirsutism, Brachycephaly, Osteolysis involv...	ORPHA:371428

The table below shows human diseases predicted to be associated to Mmp14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dens In Dente And Palatal Invaginations	Abnormality of the dentition, Dens in dente	OMIM:125300
Dens Evaginatus	Talon cusp, Abnormality of the dentition	OMIM:125280
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Taurodontism, Microdontia, And Dens Invaginatus	Dens in dente, Pulp calcification, Taurodontia, Microdontia	OMIM:313490
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Regional Odontodysplasia	Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A...	ORPHA:83450
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e...	ORPHA:2972
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta	OMIM:615887
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Immunodeficiency 33	Hypodontia, Increased circulating IgA level, Delayed eruption of teeth, Conical tooth, Decreased ...	OMIM:300636
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Amelogenesis Imperfecta	Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci...	ORPHA:88661
Dentin Dysplasia, Type I	Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont...	OMIM:125400
Oligodontia	Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene...	ORPHA:99798
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Femur-Fibula-Ulna Complex	Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop...	ORPHA:2019
Rhizomelic Dysplasia, Patterson-Lowry Type	Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,...	OMIM:601438
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i...	OMIM:204700
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Chromosome 3Q29 Duplication Syndrome	Short nose, Wide nasal bridge, Abnormally large globe, Macrocephaly, Bulbous nose, Obesity, Micro...	OMIM:611936
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Short humerus, Short femur, Epiphyseal stippling	OMIM:600121
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia	OMIM:617297
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Type Ia	Taurodontia, Generalized microdontia, Amelogenesis imperfecta	OMIM:104530
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Acheiropodia	Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met...	ORPHA:931
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Pulmonary hypoplasia	OMIM:615228
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting...	OMIM:273050
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Rhizomelic Dysplasia, Ain-Naz Type	Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ...	OMIM:619598
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex...	ORPHA:2025
Fibromatosis, Gingival, With Distinctive Facies	Irregular dentition, High palate, Delayed eruption of permanent teeth, Everted lower lip vermilio...	OMIM:228560
Acromesomelic Dysplasia 2A	Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,...	OMIM:200700
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Delayed eruption of teeth, Conical tooth, Abnormality of dental morphology, Everted l...	ORPHA:2228
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Mueller-Weiss Syndrome	Sclerosis of foot bone, Abnormality of the os naviculare pedis, Limitation of movement at ankles,...	ORPHA:566943
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta	OMIM:612529
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co...	ORPHA:477781
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Abnormality of the third metatarsal bone, Chondritis, Osteochondrosis, Ar...	ORPHA:564003
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta	OMIM:617217
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Acheiropody	Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A...	OMIM:200500
Cleft Palate, Deafness, And Oligodontia	Cleft soft palate, Oligodontia of primary teeth, No permanent dentition	OMIM:216300
Metaphyseal Chondrodysplasia, Spahr Type	Short lower limbs, Gait disturbance, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis ...	ORPHA:2501
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Osteochondrosis Of The Tarsal Bone	Tarsal stippling, Abnormal tarsal ossification, Chondritis, Tarsal sclerosis, Arthritis, Flatteni...	ORPHA:563991
Pseudoachondroplasia	Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor...	ORPHA:750
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta	OMIM:301200
Pyle Disease	Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Abs...	OMIM:265900
Thymic Aplasia With Fetal Death	Pulmonary hypoplasia	OMIM:274210
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short...	ORPHA:2491
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion	OMIM:130900
Omodysplasia 2	Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni...	OMIM:164745
Isotretinoin Syndrome	Abnormality of the outer ear, Biparietal narrowing, Micrognathia, Microtia	ORPHA:2305
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Postnatal macrocephaly, Frontal bossing, Microtia, Unsteady gait, Gait ataxia, Deeply set eye	OMIM:618158
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Pycnodysostosis	Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Absent frontal sinu...	OMIM:265800
Florid Cemento-Osseous Dysplasia	Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth...	ORPHA:83451
Lowry-Maclean Syndrome	Cleft palate, Delayed eruption of teeth	OMIM:600252
Central Core Disease Of Muscle	Central core regions in muscle fibers, Ankle flexion contracture, Skeletal muscle atrophy, Weakne...	OMIM:117000
Gne Myopathy	Abnormal right hemidiaphragm morphology, Limited shoulder movement, Lower limb amyotrophy, Hip fl...	ORPHA:602
17Q21.31 Microduplication Syndrome	Toe syndactyly, Micrognathia, High palate, Short philtrum, Failure to thrive, Short nose, Malar f...	ORPHA:217340
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Periodontal Ehlers-Danlos Syndrome	Micrognathia, Microdontia, Gingival overgrowth, Periodontitis, Joint hyperflexibility, Hyperexten...	ORPHA:75392
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Small epiphyses, Discolored lateral incisors, Oligodontia, Tapered finger, Me...	OMIM:601668
Rubinstein-Taybi Syndrome 2	Carious teeth, Prominent nose, Micrognathia, High palate, Convex nasal ridge, Narrow palate, Incr...	OMIM:613684
Rafiq Syndrome	Underdeveloped nasolabial fold, Prominent nose, Flat occiput, Smooth philtrum, Cutis laxa, Short ...	OMIM:614202
Dentinogenesis Imperfecta, Shields Type Iii	Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Taurodontia, Oligodontia	OMIM:272980
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma...	ORPHA:1028
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Cleft Lip/Palate	Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,...	ORPHA:199306
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Optic atrophy, Thickened calvaria, Brachycephaly, Craniosynostosis, Facial palsy, Broad jaw, Hype...	ORPHA:178377
Cleft Palate, Isolated	Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion	OMIM:119540
Fryns Macrocephaly	Macrodontia of permanent maxillary central incisor, Short philtrum, Wide mouth, Everted lower lip...	OMIM:600302
Spondyloepiphyseal Dysplasia Tarda	Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ...	ORPHA:93284
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ...	OMIM:612350
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Taurodontism	Taurodontia	OMIM:272700
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Robinow Syndrome, Autosomal Dominant 2	Short nose, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Micrognathia, Depressed...	OMIM:616331
Dentinogenesis Imperfecta	Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G...	ORPHA:49042
Otodental Syndrome	Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi...	ORPHA:2791
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Cleft palate	OMIM:217150
Amelogenesis Imperfecta, Type Iv	Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104510
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta	OMIM:615905
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Large fontanelles, Mandibular aplasia, Posteriorly rotated ears, Low-set ears, Prop...	ORPHA:1832
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi...	ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Quad...	OMIM:254110
Isolated Brachycephaly	Brachycephaly, Hypertelorism, Hearing impairment, Proptosis, Midface retrusion	ORPHA:35099
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Spastic gait, Hypertelorism, Macrotia, Abnormality of calvarial morphology...	ORPHA:3079
Hemifacial Atrophy, Progressive	Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion	OMIM:141300
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis	Shovel-shaped maxillary central incisors, Increased overbite, Enamel hypoplasia, Dental crowding	OMIM:600907
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:614832
Hereditary Sensory And Autonomic Neuropathy Type 2	Skeletal muscle atrophy, Abnormality of the knee, Dystrophic fingernails, Foot acroosteolysis, Ta...	ORPHA:970
Isolated Cloverleaf Skull Syndrome	Craniosynostosis, Malar flattening, Low-set, posteriorly rotated ears, Proptosis, Midface retrusion	ORPHA:2343
Multiple Epiphyseal Dysplasia With Robin Phenotype	Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e...	OMIM:601560
Acromesomelic Dysplasia, Maroteaux Type	Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,...	ORPHA:40
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Genu recurvatum, Proximal...	ORPHA:206549
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Clark-Baraitser syndrome	Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max...	OMIM:300602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Pelvic girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormalities, Shoulder girdle...	OMIM:608423
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Macrocephaly, Benign Familial	Frontal bossing, Biparietal narrowing, Dolichocephaly, Macrocephaly	OMIM:153470
Pycnodysostosis	Carious teeth, Midface retrusion, Obtuse angle of mandible, Increased bone mineral density, Hypop...	ORPHA:763
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Z-band streaming, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Macular atrophy, Optic disc pallor, Micrognathia, Retinopathy, Proptosis, Microcep...	OMIM:616171
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Hypodontia, Micrognathia, Abnormality of primary molar morphology, Gingival bleeding, Delayed clo...	OMIM:225410
Muenke Syndrome	Plagiocephaly, Short middle phalanx of finger, High palate, Midface retrusion, Capitate-hamate fu...	OMIM:602849
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc...	OMIM:155050
Desbuquois Dysplasia 1	Monkey wrench femoral neck, Genu varum, Midface retrusion, Talipes equinovarus, Short metatarsal,...	OMIM:251450
Microcephaly 6, Primary, Autosomal Recessive	Hypertelorism, Microcephaly, Microtia	OMIM:608393
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Amelogenesis Imperfecta, Type Iiic	Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de...	OMIM:618386
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi...	OMIM:204650
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme...	ORPHA:2831
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Irregularity of vertebral bodies, Abnormal hip joint morphology, Genu ...	ORPHA:1159
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Knee dislocation, Small epiphyses, Hip contracture, Coronal cleft vertebrae, Irregular vertebral ...	OMIM:618363
Osteogenesis Imperfecta, Type Xii	Micrognathia, High palate, Malar flattening, Delayed eruption of teeth, Narrow mouth	OMIM:613849
Oculodentodigital Dysplasia, Autosomal Recessive	Abnormal dental enamel morphology, Fifth finger distal phalanx clinodactyly, Delayed eruption of ...	OMIM:257850
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Atkin-Flaitz Syndrome	Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max...	OMIM:300431
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ...	OMIM:616221
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Gait disturbance, Micrognathia, Cachexia, Wrist swelling, Abnormality of epiphysis morphology, Me...	ORPHA:2774
Dentin Dysplasia	Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Prominent nose, Failure to thrive in infancy, Cachexia, Hip contracture, Tapered f...	OMIM:616801
Metaphyseal Acroscyphodysplasia	Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,...	OMIM:250215
Tubular Aggregate Myopathy	Type 2 muscle fiber atrophy, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Incre...	ORPHA:2593
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fibers, Rimmed vacuol...	OMIM:618655
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Abnormality of the pinna, Posteriorly rotated ears, Biparietal narrowing, Hypoplasia of the maxil...	ORPHA:228396
Angioosteohypotrophic Syndrome	Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Hypoplasia of the...	ORPHA:75508
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification	OMIM:125420
Mental Retardation, X-Linked 91	High palate, Short nose, Small hand, Cubitus valgus, Short 5th finger, Short foot, Obesity, Clino...	OMIM:300577
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Hypoplasia of the maxilla, Craniosynostosis, Proptosis, Microcephaly	OMIM:608432
Symbrachydactyly Of Hands And Feet	Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A...	ORPHA:1570
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Enlarged epiphyses, Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity	OMIM:264010
Ck Syndrome	Almond-shaped palpebral fissure, Upslanted palpebral fissure, Slender build, Epicanthus, Abnormal...	OMIM:300831
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Temtamy Preaxial Brachydactyly Syndrome	Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia...	ORPHA:363417
Chondroectodermal Dysplasia With Night Blindness	Gait disturbance, Metaphyseal dysplasia, Abnormal hair morphology, Abnormality of the knee, Fract...	ORPHA:319195
Mucolipidosis Type Iv	Gait disturbance, Abnormality of retinal pigmentation, Ataxia, EEG abnormality, Retinopathy, Bipa...	ORPHA:578
Cerebrooculofacioskeletal Syndrome 1	Hirsutism, Rocker bottom foot, Second metatarsal posteriorly placed, Failure to thrive, Kyphoscol...	OMIM:214150
Catifa Syndrome	Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o...	OMIM:618761
Cherubism	Optic atrophy, Abnormal mandible morphology, Broad jaw, Proptosis	ORPHA:184
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, High palate, Cutis laxa, Long philtrum, Failure to thrive, Short nose, Malar flatt...	OMIM:219200
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Shoulder girdle muscle atrophy, Enlargement of the ankles, Limitation of movement at ankles, Shou...	ORPHA:437572
Mandibulofacial Dysostosis-Microcephaly Syndrome	Large earlobe, Conductive hearing impairment, Micrognathia, Morphological abnormality of the midd...	ORPHA:79113
Vacuolar Neuromyopathy	Shoulder girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Centrally nucleated skeleta...	OMIM:601846
Tetraploidy	Biparietal narrowing, Micrognathia, Hypoplasia of the ear cartilage, Microcephaly	ORPHA:3305
Tooth Agenesis, Selective, X-Linked, 1	Hypodontia, Agenesis of lateral incisor, Oligodontia, Selective tooth agenesis, Agenesis of premo...	OMIM:313500
Hereditary Myopathy With Early Respiratory Failure	Necrotizing myopathy, Muscle fiber hypertrophy, Skeletal muscle atrophy, Internally nucleated ske...	ORPHA:178464
Inclusion Body Myositis	Abnormal muscle fiber morphology, Ragged-red muscle fibers, Skeletal muscle atrophy, Quadriceps m...	ORPHA:611
Cutis Laxa, Autosomal Recessive, Type Iib	Large fontanelles, Failure to thrive, Bowing of the long bones, Malar flattening, Congenital hip ...	OMIM:612940
C Syndrome	Accessory oral frenulum, Short nose, Fused sternal ossification centers, Patent ductus arteriosus...	OMIM:211750
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Abnormality of the ...	ORPHA:99642
Man1B1-Cdg	Underdeveloped nasolabial fold, Prominent nose, 2-3 toe syndactyly, Smooth philtrum, Eclabion, Sh...	ORPHA:397941
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Limited elbow flexion, Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, L...	ORPHA:266
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Spondylolysis, Os odontoideum, Limb muscle weakness, Spondylolisthesis at L5-S1, Atlantoaxial ins...	OMIM:600561
Peho Syndrome	Optic atrophy, Midface retrusion, Malar flattening, Arthrogryposis multiplex congenita, Macrotia,...	ORPHA:2836
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Abnormality of pelvic girdle bone morphology, Hyperostosis, Metat...	OMIM:144750
Auriculocondylar Syndrome 2	Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular...	OMIM:614669
Myopathy, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Centra...	OMIM:608358
Rhizomelic Chondrodysplasia Punctata, Type 5	Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ...	OMIM:616716
Mcdonough Syndrome	Abnormal palate morphology, Micrognathia, Cachexia, Underdeveloped nasal alae, Short philtrum, Op...	ORPHA:2471
Progressive Pseudorheumatoid Dysplasia	Genu varum, Joint contracture of the hand, Camptodactyly of finger, Enlargement of the proximal f...	OMIM:208230
Nemaline Myopathy 2	Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A...	OMIM:256030
Microcephaly 3, Primary, Autosomal Recessive	Sensorineural hearing impairment, Proptosis, Microcephaly	OMIM:604804
Achondroplasia	Limited hip extension, Genu varum, Depressed nasal bridge, Lumbar kyphosis in infancy, Spinal ste...	OMIM:100800
Hypochondroplasia	Genu varum, Frontal bossing, Limited elbow extension, Abnormality of pelvic girdle bone morpholog...	OMIM:146000
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hypertelorism, Abnormal dental enamel morphology, Low-set, posteriorly rotated ears, Macrotia, Tu...	ORPHA:1005
Conductive Deafness-Malformed External Ear Syndrome	Hernia of the abdominal wall, Conductive hearing impairment, Overfolded helix, Abnormality of the...	ORPHA:3216
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Waddling gai...	ORPHA:363454
Anauxetic Dysplasia 3	Plagiocephaly, Short middle phalanx of finger, Depressed nasal bridge, Cutis laxa, Oligodontia, M...	OMIM:618853
Spondyloepiphyseal Dysplasia, Nishimura Type	Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Slender finger, Anisospondyly...	ORPHA:163649
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Panacinar emphysema	OMIM:613490
Larsen-Like Syndrome	Cleft palate, Radial deviation of the 4th finger, Absent nasal bridge, Talipes equinovarus, Brach...	OMIM:608545
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Toe syndactyly, High palate, Depressed nasal bridge, Open bite, Brachycephaly, Man...	ORPHA:1327
Neuronal Intestinal Pseudoobstruction	Natal tooth, Decreased circulating antibody level	ORPHA:99811
Myopathy, Scapulohumeroperoneal	Skeletal muscle atrophy, Wrist drop, Achilles tendon contracture, Facial palsy, Centrally nucleat...	OMIM:616852
Blepharophimosis-Impaired Intellectual Development Syndrome	Talipes equinovarus, Patent ductus arteriosus, Thin upper lip vermilion, Anteverted nares, Plagio...	OMIM:619293
Hypophosphatasia, Childhood	Carious teeth, Craniosynostosis, Frontal bossing, Waddling gait, Proptosis, Dolichocephaly	OMIM:241510
Prieto X-Linked Mental Retardation Syndrome	Prominent nose, Talipes equinovarus, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Radi...	OMIM:309610
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Spinal muscular atrophy,...	OMIM:158600
Intellectual Disability, Birk-Barel Type	Contractures involving the joints of the feet, High, narrow palate, Micrognathia, Broad nasal tip...	ORPHA:166108
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Flexion contracture of toe, Abnormality of epiphysis morphology, Upslanted palpeb...	ORPHA:3409
Mucolipidosis Type Iii	Abnormal form of the vertebral bodies, Hypoplastic inferior ilia, Acne, Reduced bone mineral dens...	ORPHA:577
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Talipes equinovarus, Achilles tendon contracture, Knee flexion contracture, Hip ...	OMIM:615290
Myofibrillar Myopathy 11	Z-band streaming, Generalized amyotrophy, Shoulder girdle muscle atrophy, EMG: myopathic abnormal...	OMIM:619178
Metaphyseal Chondrodysplasia, Schmid Type	Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe...	ORPHA:174
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Hypoplasia of the femoral head, Small...	OMIM:617396
Alpha-Mannosidosis	Widely spaced teeth, Depressed nasal bridge, Open bite, Macroglossia, Mandibular prognathia, Bowi...	ORPHA:61
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Trigonocephaly, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Abnormal retin...	ORPHA:2994
Maxillonasal Dysplasia	Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Midface retr...	ORPHA:1248
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flexion contracture...	OMIM:602484
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu...	ORPHA:93314
Shashi-Pena Syndrome	Hypertelorism, Posteriorly rotated ears, Macrocephaly, Proptosis, Retrognathia, Low-set ears	OMIM:617190
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	2-3 toe syndactyly, Micropenis, Bulbous nose, Short toe, 4-5 toe syndactyly, Frontal balding, Pat...	ORPHA:3041
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Neuronopathy, Distal Hereditary Motor, Type Viii	Nonprogressive muscular atrophy, Hip contracture, Talipes equinovarus, Proximal lower limb amyotr...	OMIM:600175
Microphthalmia, Syndromic 12	Pulmonary hypoplasia	OMIM:615524
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Toluene Embryopathy	Micrognathia, Hypoplasia of the zygomatic bone, Low-set ears, Biparietal narrowing, Protruding ea...	ORPHA:1920
Achondroplasia	Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Antevert...	ORPHA:15
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion	ORPHA:181
Mulibrey Nanism	Hypodontia, Depressed nasal bridge, Hypoplastic frontal sinuses, Thickened cortex of long bones, ...	OMIM:253250
Hydrocephalus With Associated Malformations	Pulmonary hypoplasia	OMIM:236640
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Neurologic Disease, Infantile Multisystem, With Osseous Fragility	Skeletal muscle atrophy, Osteoporosis, Hip dislocation, Hip subluxation, Recurrent fractures	OMIM:256720
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Micrognathia, Abnormality of calvarial morphology, Proptosis, Camptodactyly of finger, Biparietal...	ORPHA:1323
Cortical Blindness, Retardation, And Postaxial Polydactyly	Short nose, Microretrognathia, Frontal bossing, Long philtrum	OMIM:218010
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis...	ORPHA:1275
Progeroid Syndrome, Petty Type	Cutis laxa, Mandibular prognathia, Failure to thrive, Redundant skin, Decreased skull ossificatio...	ORPHA:2963
Warburg Micro Syndrome 1	Hypertrichosis, Ptosis, Failure to thrive, Kyphoscoliosis, Osteoporosis, External genital hypopla...	OMIM:600118
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs	ORPHA:3346
Eiken Syndrome	Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Cubi...	ORPHA:79106
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Ankle flexion contracture, Scapular muscle atrophy, Congenital finger flexion contractures, Hamst...	ORPHA:267
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Prominent nose, Ptosis, Patellar subluxation, Osteoporosis, Epicanthus, Coxa valga, Finger clinod...	ORPHA:2958
Nonaka Myopathy	EMG: myopathic abnormalities, Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, D...	OMIM:605820
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Kyphoscoliosis, Osteoporosis, Long eyelashes, Dislocated radial head, Wo...	OMIM:614856
Congenital unilateral pulmonary hypoplasia	Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the lungs, Anomalous pulmonary venous ...	ORPHA:2258
Hall-Riggs Mental Retardation Syndrome	Prominent nose, Metaphyseal dysplasia, Depressed nasal bridge, Irregular vertebral endplates, Fai...	OMIM:234250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor...	OMIM:171480
Otodental Dysplasia	Hypodontia, Pulp calcification, Taurodontia, Long philtrum	OMIM:166750
Myopathy, Centronuclear, 1	Skeletal muscle hypertrophy, Facial palsy, EMG: myopathic abnormalities, Flexion contracture, Cen...	OMIM:160150
Ameloonychohypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi...	OMIM:104570
Congenital Disorder Of Glycosylation, Type Iik	Metaphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Osteoporosis, Epiphyseal dysplasia, Dia...	OMIM:614727
Craniosynostosis And Dental Anomalies	Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary tooth, Sagittal craniosynostosis, ...	OMIM:614188
Pseudoachondroplasia	Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula...	OMIM:177170
Ramon Syndrome	Gingival fibromatosis, Narrow palate, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:3019
Mental Retardation, Buenos Aires Type	Carious teeth, Prominent nose, High palate, Wide mouth, Mandibular prognathia, Failure to thrive,...	OMIM:249630
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Biparietal narrowing, Protruding ear, Microce...	ORPHA:2518
Distal Trisomy 14Q	Abnormal lung lobation	ORPHA:1705
Hip Dysplasia, Beukes Type	Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o...	ORPHA:2114
Intermediate Osteopetrosis	Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th...	ORPHA:210110
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Bifid nose, Bulbous...	OMIM:275595
Tetrasomy 12P	Cachexia, Long philtrum, Short nose, Thick upper lip vermilion, Delayed eruption of teeth, Abnorm...	ORPHA:884
Brachyolmia Type 1, Hobaek Type	Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Sho...	OMIM:271530
Chromosome 18P Deletion Syndrome	Dystonia, Micrognathia, High palate, Redundant neck skin, Small for gestational age, Tooth malpos...	OMIM:146390
Bangstad Syndrome	Abnormally large globe, Convex nasal ridge, Small for gestational age	OMIM:210740
Myopathic Ehlers-Danlos Syndrome	Talipes equinovarus, Joint contracture of the hand, Elbow flexion contracture, Contractures invol...	ORPHA:536516
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin...	ORPHA:2787
X-Linked Intellectual Disability, Cabezas Type	Cubitus valgus, Abnormal hair pattern, Camptodactyly of finger, Toe syndactyly, Prominent nose, E...	ORPHA:85293
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Abnormality of the pinna, Frontal bossing, Macrocephaly, Microtia, Low-set...	OMIM:613603
Trichodentoosseous Syndrome	Widely spaced teeth, Taurodontia, Microdontia	OMIM:190320
Weaver Syndrome	Micrognathia, Talipes equinovarus, Long philtrum, Large hands, Abnormality of the metaphysis, Dee...	ORPHA:3447
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Aphalangy With Hemivertebrae	Pulmonary hypoplasia	OMIM:207620
Atelosteogenesis, Type Ii	Short greater sciatic notch, Increased intervertebral space, Short middle phalanx of finger, Tali...	OMIM:256050
Holt-Oram Syndrome	Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp...	OMIM:142900
Three M Syndrome 1	Hypospadias, Hypoplastic pelvis, Depressed nasal bridge, Small for gestational age, Joint disloca...	OMIM:273750
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn...	ORPHA:2878
Dysspondyloenchondromatosis	Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Platyspondyly, Metaphyseal enchondro...	ORPHA:85198
Tricho-Dento-Osseous Syndrome	Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, De...	ORPHA:3352
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Pelvic girdle muscle weakness, Proximal lower limb amyo...	OMIM:609115
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia, Myopathy, Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Li...	ORPHA:157973
Christianson Syndrome	Dystonia, Cachexia, Adducted thumb, Mandibular prognathia, Arthrogryposis multiplex congenita, Ab...	ORPHA:85278
Odontochondrodysplasia	Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ...	ORPHA:166272
Myopathy, Congenital Proximal, With Minicore Lesions	Minicore myopathy, Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated sk...	OMIM:618823
Spondyloepimetaphyseal Dysplasia, Irapa Type	Gait disturbance, Upper limb undergrowth, Abnormal joint morphology, Abnormality of epiphysis mor...	ORPHA:93351
Short Syndrome	Enlarged epiphyses, Hypodontia, Micrognathia, Underdeveloped nasal alae, Small for gestational ag...	OMIM:269880
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula...	OMIM:601954
20P12.3 Microdeletion Syndrome	Hypertelorism, Malar flattening, Macrocephaly, Microtia, Hypoplasia of the maxilla, Thickened hel...	ORPHA:261295
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth	ORPHA:1816
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Increase...	OMIM:618848
1Q44 Microdeletion Syndrome	Micrognathia, Optic disc hypoplasia, Hypertelorism, Frontal bossing, Prominent metopic ridge, Bip...	ORPHA:238769
Cranioectodermal Dysplasia	Rhizomelia, Craniosynostosis, Osteoporosis, Abnormality of the metaphysis, Epicanthus, Finger syn...	ORPHA:1515
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Short philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Delayed eruption of tee...	ORPHA:2325
Osteolysis Syndrome, Recessive	Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ...	OMIM:259610
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Myopathy, Triceps weakness, Generalized amyotrophy, Left ventricular hypertrophy, Muscular dystro...	ORPHA:86812
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Rhizomelia, Stippled calcification proximal humeral epiphyses, Short humerus, Abnor...	OMIM:222765
Winchester Syndrome	Arthropathy, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the fee...	OMIM:277950
Trichorhinophalangeal Syndrome Type 2	Abnormal palate morphology, Long philtrum, Avascular necrosis of the capital femoral epiphysis, S...	ORPHA:502
Ehlers-Danlos Syndrome, Classic Type, 2	Talipes equinovarus, Generalized joint laxity, Congenital hip dislocation, Joint hypermobility, R...	OMIM:130010
Microcephaly 5, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Proptosis, Microcephaly, Hearing impairment	OMIM:608716
Multiple Synostoses Syndrome 1	Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit...	OMIM:186500
Lessel-Kreienkamp Syndrome	Plagiocephaly, Wide nasal bridge, Patent ductus arteriosus, Attention deficit hyperactivity disor...	OMIM:619149
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
6Q16 Microdeletion Syndrome	Micrognathia, Macrocephaly, Retrognathia, Microtia, Broad-based gait, Low-set ears, Abnormal ear ...	ORPHA:171829
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Reduced muscle fiber alpha dystroglycan, Waddling gait, Limb-girdle mu...	ORPHA:280333
Aredyld Syndrome	Cachexia, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eru...	ORPHA:1133
Hypochondroplasia	Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow...	ORPHA:429
Crouzon Disease	Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Hearing impairment, F...	ORPHA:207
Extensor Tendons Of Finger Anomalies	Osteoporosis, Skeletal muscle atrophy, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder girdle muscle atrophy, C...	OMIM:613530
Bare Lymphocyte Syndrome, Type I	Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis	OMIM:604571
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Widely spaced teeth, Malar flattening, Dental malocclusion	OMIM:616108
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Short 5th metacarpal, Short philtrum, Metaphyseal dysplasia, Convex nasa...	OMIM:156510
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Short nose, Toe clinodactyly, Limit...	ORPHA:457395
Renpenning Syndrome	High, narrow palate, Cachexia, Cleft palate, Prominent nose, Short philtrum, Mandibular prognathi...	ORPHA:3242
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Conductive hearing impairment, Brachycephaly, Hypertelorism, Malar flattening, Fro...	ORPHA:93262
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Myopathy, Increased variability in muscle fiber diameter	OMIM:618992
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, High palate, Abnormality of the philtrum, Delayed eruption of teeth, Broad alveolar...	ORPHA:2863
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cleft palate, Cutis laxa, Long upper lip, Talipes equinovarus, Epiphyseal dysplasia, Hip dislocat...	OMIM:615349
Mullegama-Klein-Martinez Syndrome	Micrognathia, Congenital diaphragmatic hernia, Frontal bossing, Sensorineural hearing impairment,...	OMIM:301022
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Hip dysplasia, Short distal phalanx of finger, Den...	ORPHA:1858
Mosaic Trisomy 14	Micrognathia, Hypertelorism, Low-set, posteriorly rotated ears, Frontal bossing, Camptodactyly of...	ORPHA:1703
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormality of the knee, Short nose, Pr...	ORPHA:251028
Three M Syndrome 2	Prominent nasal tip, High palate, Depressed nasal bridge, Small for gestational age, Long philtru...	OMIM:612921
Epiphyseal Dysplasia, Multiple, 1	Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula...	OMIM:132400
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Broad femoral neck, Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, I...	OMIM:609223
Odontomicronychial Dysplasia	Premature loss of primary teeth, Abnormality of the dentition, Premature eruption of permanent teeth	ORPHA:1811
Acrodysostosis	Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Delayed eruption of ...	ORPHA:950
Lissencephaly Type Iii And Bone Dysplasia	Pulmonary hypoplasia	OMIM:601160
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Brachycephaly, Hypertelorism, Malar flattening, Sensorineura...	OMIM:109120
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Scapuloperoneal amyotrophy, Talipes equinovarus, Joint contracture of the hand, Waddling gait, Hy...	OMIM:611067
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears	ORPHA:357175
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Conductive hearing impairment, Hypotelorism, Abnormality of the pinna, Sensorineural hearing impa...	OMIM:618500
Dna2-Related Mitochondrial Dna Deletion Syndrome	Gait disturbance, Myopathy, Congenital ptosis, Slender build, Hyperlordosis, Multiple joint contr...	ORPHA:352470
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy, Failure to thrive, Osteoporosis, Kyphosis, Scoliosis	OMIM:618234
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Brachycephaly, Craniosynostosis, Malar flattening, Hypertelorism, Turricephaly, Abn...	ORPHA:2145
Isolated Glycerol Kinase Deficiency	Myopathy, Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis	ORPHA:408
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Optic atrophy, Midface retrusion, Interictal epileptiform activity, Progressive microcephaly, Hyp...	OMIM:618737
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Forsythe-Wakeling Syndrome	Frontal bossing, Decreased body weight, Osteoporosis, Prominent nasal bridge	OMIM:613606
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Atresia of the external auditory canal, Microtia, Biparietal n...	ORPHA:1770
Rigid Spine Syndrome	Myopathy, Skeletal muscle atrophy, Hip contracture, Pneumonia, Hamstring contractures, Spinal rig...	ORPHA:97244
Brachydactylous Dwarfism, Mseleni Type	Brachytelomesophalangy, Hip osteoarthritis, Abnormal femoral head morphology, Knee osteoarthritis...	ORPHA:2619
Seckel Syndrome 1	Small anterior fontanelle, Cleft palate, 11 pairs of ribs, Elbow flexion contracture, Cone-shaped...	OMIM:210600
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro...	OMIM:118651
Flynn-Aird Syndrome	Increased bone density with cystic changes, Alopecia of scalp, Kyphoscoliosis, Osteoporosis, Alop...	OMIM:136300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Dysmetria, Hypogonadotropic hypogonadism, Osteoporosis, Acute rhabdomyolysis, Long eyelashes, Abn...	ORPHA:48431
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Optic atrophy, Macrotia, Proptosis, Progressive flexion contractures, Protruding e...	OMIM:617481
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Momo Syndrome	Thick lower lip vermilion, High palate, Smooth philtrum, Long philtrum, Abnormal bone ossificatio...	ORPHA:2563
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Upper limb undergrowth, Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fractu...	ORPHA:166277
Ck Syndrome	Almond-shaped palpebral fissure, Long fingers, Kyphoscoliosis, Slender build, Epicanthus, Promine...	ORPHA:251383
15Q14 Microdeletion Syndrome	Low-set ears, Deeply set eye, Biparietal narrowing, Inguinal hernia, Microcephaly	ORPHA:261190
Autosomal Recessive Distal Osteolysis Syndrome	Midface retrusion, Hypoplasia of the maxilla, Proptosis	ORPHA:2776
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Trigonocephaly, Micrognathia, Cleft palate, Redundant skin	ORPHA:1779
Multiple Epiphyseal Dysplasia Type 1	Abnormal acetabulum morphology, Gait disturbance, Genu varum, Arthralgia of the hip, Short long b...	ORPHA:93308
Premature Aging Syndrome, Penttinen Type	Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Prominent nasal bridge, Dela...	OMIM:601812
Legg-Calvé-Perthes Disease	Joint dislocation, Cartilage destruction, Skeletal muscle atrophy	ORPHA:2380
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, Micrognathia, Microtia, Joint contracture of the 5th finger, Micro...	OMIM:248910
Flynn-Aird Syndrome	Carious teeth, Bone cyst, Cachexia, Ataxia, Joint stiffness, Skin ulcer	ORPHA:2047
Minicore Myopathy With External Ophthalmoplegia	Type 1 and type 2 muscle fiber minicore regions, Minicore myopathy, Skeletal muscle atrophy, Faci...	OMIM:255320
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Micrognathia, Hypertelorism, Pericallosal lipoma, Macrocephaly, Mi...	ORPHA:398156
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Midface retrusion, Micrognathia, Microtia, Conductive hearing impairment	OMIM:300946
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Myotubular Myopathy With Abnormal Genital Development	Hypospadias, Myopathy, Neonatal death, Joint hypermobility, Micropenis, Centrally nucleated skele...	OMIM:300219
Ohdo Syndrome	Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ...	OMIM:249620
Parietal Foramina With Cleidocranial Dysplasia	Symmetrical, oval parietal bone defects, Parietal foramina, Widely patent fontanelles and sutures...	OMIM:168550
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Deeply set eye, Flexion contracture, Microtia	OMIM:612138
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Glycogen Storage Disease Xiii	Increased muscle glycogen content	OMIM:612932
Meier-Gorlin Syndrome 8	Low-set ears, Micrognathia, Microcephaly, Microtia	OMIM:617564
Crouzon Syndrome	Optic atrophy, Conductive hearing impairment, Shallow orbits, Brachycephaly, Mandibular prognathi...	OMIM:123500
Acrocephalopolydactyly	Hypertelorism, Microtia, Oxycephaly, Premature closure of fontanelles	ORPHA:221054
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Depressed nasal bridge, Hip osteoarthritis, Frontal bossing, Short thumb, Waddling gait, Broad ha...	OMIM:165800
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Cachexia, Long philtrum, Short nose, Postaxial hand polydactyly, Micr...	ORPHA:1389
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Micrognathia, Smooth philtrum, Cachexia, Short philtrum, Talipes equinovarus, Hip ...	ORPHA:371364
Autosomal Dominant Omodysplasia	Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation	ORPHA:93328
Non-Distal Monosomy 10Q	Biparietal narrowing, Gait disturbance, Ataxia	ORPHA:1581
Cantu Syndrome	Curly eyelashes, Congenital, generalized hypertrichosis, Broad hallux, Anteverted nares, Hypoplas...	OMIM:239850
Growth Hormone Insensitivity Syndrome	Everted lower lip vermilion, Delayed eruption of teeth, Abnormality of the mouth	ORPHA:181393
Myopathy, Distal, 5	Myopathy, Facial palsy, Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting	OMIM:617030
Salih Myopathy	Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Centrally nucleated skeleta...	OMIM:611705
Keppen-Lubinsky Syndrome	Abnormally large globe, Underdeveloped nasal alae, Microcephaly, Failure to thrive	OMIM:614098
Multicentric Osteolysis, Nodulosis, And Arthropathy	C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio...	OMIM:259600
Myasthenic Syndrome, Congenital, 14	Ragged-red muscle fibers, Waddling gait, Hyperlordosis, Flexion contracture, Scapular winging, Di...	OMIM:616228
Laryngoonychocutaneous Syndrome	Amelogenesis imperfecta	OMIM:245660
Brachydactyly, Type B1	Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,...	OMIM:113000
Neuropathy, Congenital Hypomyelinating, 3	Dystonia, Micrognathia, High palate, Cachexia, Limb joint contracture, Hand clenching, Gingival o...	OMIM:618186
Teeth, Supernumerary	Supernumerary tooth, Mesiodens	OMIM:187100
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Diastema, Wide mouth, Macroglossia, Gingival ...	OMIM:618729
Ollier Disease	Platyspondyly, Abnormality of the metaphysis, Osteolysis, Precocious puberty, Abnormal cartilage ...	ORPHA:296
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas...	OMIM:608940
Fetal Alcohol Syndrome	Micrognathia, Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Biparietal narr...	ORPHA:1915
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Convex nas...	OMIM:216550
Odontochondrodysplasia 1	Genu varum, Genu recurvatum, Delayed eruption of teeth, Short phalanx of finger, Short long bone,...	OMIM:184260
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shaped epiphyses of ...	OMIM:190350
Oculopharyngodistal Myopathy 2	Weakness of facial musculature, EMG: myopathic abnormalities, Rimmed vacuoles, Increased endomysi...	OMIM:618940
Mental Retardation, Autosomal Recessive 35	Flat occiput, Micrognathia, Hypertelorism, Malar flattening, Microtia, Low-set ears	OMIM:615162
Pontocerebellar Hypoplasia, Type 3	Optic atrophy, Brachycephaly, Macrotia, Hearing impairment, Progressive microcephaly, Proptosis, ...	OMIM:608027
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Micrognathia, High palate, Knee dislocation, Osteoporosis, Shoulder dislocation, H...	OMIM:618000
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Dysostosis, Stanescu Type	Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t...	ORPHA:1798
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pulmonary hypoplasia	OMIM:224410
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Micrognathia, High palate, Failure to thrive, Supernumerary tooth, Wide nasal base, Delayed erupt...	OMIM:264475
Bethlem Myopathy 2	Myopathy, Hip dislocation, Increased variability in muscle fiber diameter, Flexion contracture, S...	OMIM:616471
Potocki-Lupski Syndrome	Prominent nasal tip, Micrognathia, High palate, Smooth philtrum, Wide mouth, Small for gestationa...	OMIM:610883
Intellectual Developmental Disorder, Autosomal Dominant 23	Hypospadias, Depressed nasal bridge, Low anterior hairline, Postaxial polydactyly, Ptosis, Upslan...	OMIM:615761
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Short nose, Abnormality of the metaphysis, Reduced bone mi...	ORPHA:2370
Hyperostosis Cranialis Interna	Optic atrophy, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, Facial pa...	OMIM:144755
Lowry-Maclean Syndrome	Small anterior fontanelle, High, narrow palate, Micrognathia, Cleft palate, Convex nasal ridge, T...	ORPHA:2409
Mitochondrial Myopathy With Diabetes	Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Weakne...	OMIM:500002
Coffin-Siris Syndrome 10	Persistence of primary teeth, Wide mouth	OMIM:618506
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Carious teeth, High palate, Smooth philtrum, Broad nasal tip, Redundant neck skin, Long philtrum,...	ORPHA:357074
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Hypertelorism, Posteriorly rotated ears, Deeply set eye, Hyperactivity, Microtia, ...	OMIM:618089
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Dystonia, Talipes equinovarus, Kyphosis, Hip dislocation, Inability to walk, Waddling gait, Ataxi...	OMIM:616756
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Antalgic gai...	ORPHA:166011
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Plagiocephaly, Cleft palate, Diastema, Microdontia, Talon cusp, Short metatars...	OMIM:605282
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Depressed nasal bridg...	ORPHA:2097
Muscular Dystrophy, Congenital, Merosin-Positive	Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c...	OMIM:609456
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Convex nasal ridge, Cachexia, Weight loss, Reduced bone mineral density, Narrow mou...	ORPHA:1979
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy	OMIM:604454
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar...	OMIM:614078
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Thickened calvaria, Large fontanelles, Large iliac wing, Brachycephaly, Osteopetros...	ORPHA:2780
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,...	ORPHA:2788
Aarskog-Scott Syndrome	Cleft palate, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptodactyly of fin...	ORPHA:915
Hallermann-Streiff Syndrome	Malar flattening, Underdeveloped nasal alae, Micrognathia, High palate, Narrow nose, Wormian bone...	OMIM:234100
Robinow Syndrome, Autosomal Recessive 2	Omphalocele, Micrognathia, Relative macrocephaly, Hypertelorism, Posteriorly rotated ears, Low-se...	OMIM:618529
King-Denborough Syndrome	Bilateral ptosis, Low hanging columella, Minicore myopathy, Weakness of facial musculature, Downs...	OMIM:619542
Kleeblattschaedel	Craniosynostosis, Proptosis, Cloverleaf skull	OMIM:148800
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Micrognathia, Depressed nasal bridge, Large fontanelles, Long philtrum, Brachycep...	ORPHA:171839
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia	OMIM:262020
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Wide nose, Osteoporosis, Short neck, Scoliosis, Joint laxity	OMIM:616033
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology	ORPHA:1221
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Frontal bossing, Malar flattening, Proptosis, Microcephaly	ORPHA:85172
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Cone-shaped epiphysis, Abnormality of the pubic bone, Large iliac wing, Ptosis, Bra...	ORPHA:2511
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Acrodysostosis 1 With Or Without Hormone Resistance	Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Long hallux, Calvarial hyperos...	OMIM:101800
Pde4D Haploinsufficiency Syndrome	Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt...	ORPHA:439822
Van Maldergem Syndrome 2	Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo...	OMIM:615546
Craniofaciofrontodigital Syndrome	Ecchymosis, Depressed nasal bridge, Palmoplantar cutis laxa, Long philtrum, Short nose, Cubitus v...	OMIM:114620
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Micrognathia, Cachexia, Patellar aplasia, Wide mouth, Short philtrum, ...	ORPHA:2058
Frontometaphyseal Dysplasia 1	Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi...	OMIM:305620
Lichtenstein Syndrome	C1-C2 subluxation, Hirsutism, Decreased circulating IgA level, Ulnar deviation of finger, Increas...	OMIM:246550
Auditory Neuropathy, Autosomal Dominant, 1	Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials...	OMIM:609129
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt...	OMIM:602483
Intellectual Developmental Disorder, X-Linked 58	Short philtrum, Dental malocclusion	OMIM:300210
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Myopathy, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ...	OMIM:277440
Non-Distal Trisomy 10Q	Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Brachycephaly, Short nose,...	ORPHA:1695
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Failure to thrive, Slender build, Cubitus valgus, Disharmonious carpal...	OMIM:608154
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Hypodontia, Micrognathia, High palate, 2-3 toe syndactyly, Tapered finger, Short nose, Thick verm...	OMIM:617061
Thoracomelic Dysplasia	Gait disturbance, Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morp...	ORPHA:1803
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Arthrogryposis multiplex congenita, Dental malocclusion	OMIM:608931
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb mu...	OMIM:619042
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Duchenne And Becker Muscular Dystrophy	Gait disturbance, Myopathy, Skeletal muscle atrophy, Reduced bone mineral density, Slender long b...	ORPHA:262
Moderate Multiminicore Disease With Hand Involvement	Knee dislocation, Recurrent patellar dislocation, Facial palsy, Intrinsic hand muscle atrophy, Ty...	ORPHA:178145
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Micrognathia, High palate, Failure to thrive, Trigonocephaly, Short nose, Deep philtrum, Osteopen...	ORPHA:329178
Van Maldergem Syndrome 1	Cutaneous finger syndactyly, Talipes equinovarus, Malar flattening, Short fourth metatarsal, Hypo...	OMIM:601390
Schwartz-Jampel Syndrome, Type 1	Long eyelashes in irregular rows, Anterior bowing of long bones, Hip contracture, Talipes equinov...	OMIM:255800
Schwartz-Jampel Syndrome	Long eyelashes in irregular rows, Hip contracture, Talipes equinovarus, Skeletal muscle hypertrop...	ORPHA:800
X-Linked Intellectual Disability, Stocco Dos Santos Type	Depressed nasal bridge, Hirsutism, Talipes equinovarus, Small for gestational age, Congenital bil...	ORPHA:85288
Geroderma Osteodysplasticum	Tibial bowing, Cutis laxa, Mandibular prognathia, Increased susceptibility to fractures, Osteopor...	OMIM:231070
Mental Retardation With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Short nose, Malar flattening, Drooling, Open mouth...	OMIM:613670
Frank-Ter Haar Syndrome	Redundant neck skin, Talipes equinovarus, Thin upper lip vermilion, Camptodactyly, Anteverted nar...	OMIM:249420
Menkes Disease	Metaphyseal spurs, Cutis laxa, Brachycephaly, Metaphyseal widening, Osteoporosis, Wormian bones, ...	OMIM:309400
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Hamamy Syndrome	Hypodontia, High palate, Micrognathia, Smooth philtrum, Wide mouth, Long philtrum, Tapered finger...	OMIM:611174
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Enamel hypoplasia	OMIM:614564
Distal Myopathy, Welander Type	Myopathy, Distal upper limb amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Intrinsic ...	ORPHA:603
Pierpont Syndrome	Widely spaced teeth, Smooth philtrum, Broad nasal tip, Long upper lip, Short finger, Failure to t...	OMIM:602342
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Micrognathia, Convex nasal ridge, Mesomelia, Tooth agenesis, Brachyda...	ORPHA:1277
Bruck Syndrome 1	Ankle flexion contracture, Hip contracture, Vertebral wedging, Talipes equinovarus, Increased sus...	OMIM:259450
Kniest Dysplasia	Hip contracture, Hypoplastic pelvis, Gait disturbance, Depressed nasal bridge, Coronal cleft vert...	OMIM:156550
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Mandibular prognathia, Macrotia, Hypoplasia of the maxilla, Microcephaly	ORPHA:93950
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Minicore myopathy, Limb muscle weakness, EMG: myopathic abnormalitie...	ORPHA:486815
3-Hydroxyisobutyric Aciduria	Micrognathia, Microcephaly, Microtia	ORPHA:939
Mesomelic Limb Shortening And Bowing	Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin...	OMIM:249710
Ring Chromosome 10 Syndrome	Micrognathia, Cachexia, Long philtrum, Tapered finger, Thin vermilion border, Wide nasal bridge, ...	ORPHA:1438
3M Syndrome	Hypospadias, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Hypoplastic pelvis, Incre...	ORPHA:2616
Coffin-Lowry Syndrome	Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Thick nasal alae, Gait di...	ORPHA:192
Macrocephaly/Autism Syndrome	Frontal bossing, Biparietal narrowing, Postnatal macrocephaly	OMIM:605309
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Midface r...	OMIM:618379
Myopathy, Congenital, With Fiber-Type Disproportion	Limb joint contracture, Facial palsy, Congenital hip dislocation, Type 1 fibers relatively smalle...	OMIM:255310
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Hypotelorism, Frontal bossing, Microcephaly, Microtia, Deeply se...	OMIM:612530
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Cutis laxa, Arachnodactyly, Wide nasal bridge, Osteopenia, Abnormality of primary teeth, Gingivit...	ORPHA:75496
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Metatarsal osteolysis, Wrist swelling, Ankle swelling, Metacarpal osteolysis, Osteo...	OMIM:166300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Micrognathia, Diastema, Malar flattening, Broad columella, Dental malo...	ORPHA:436245
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Blepharonasofacial Malformation Syndrome	Underdeveloped nasal alae, Cleft palate, Long philtrum, Wide nose, Wide nasal bridge, Finger synd...	ORPHA:1252
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Monkey wrench femoral neck, 2-3 toe syndactyly, Limited elbow extension, Anteverted nares, Flat a...	OMIM:618870
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Hypogonadism, Osteoporosis, Osteopenia	OMIM:615270
Wilson-Turner Syndrome	Malar prominence, Micrognathia, Deeply set eye, Microtia	ORPHA:3459
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myopathy, Skeletal muscle atrophy, Myositis, Rimmed vacuoles, Muscle fiber atrophy, Centrally nuc...	OMIM:615422
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Cleft palate, Short nose, Thin upper lip vermilion, Anteverted nares	ORPHA:2015
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Gait disturbance, Proximal muscle weakness in lower limbs, Gait imbalance, Foot dorsiflexor weakn...	ORPHA:435387
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni...	OMIM:618484
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hallux valgus, Cleft palate, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad dista...	OMIM:245600
Treacher Collins Syndrome 3	Conductive hearing impairment, Micrognathia, Malar flattening, Abnormality of the outer ear, Micr...	OMIM:248390
Acrootoocular Syndrome	High, narrow palate, Micrognathia, Small for gestational age, Short finger, Failure to thrive, Su...	ORPHA:2980
Distal 22Q11.2 Microduplication Syndrome	Micrognathia, Mandibular prognathia, Hypertelorism, Optic disc coloboma, Low-set ears, Frontal bo...	ORPHA:261337
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia	OMIM:616733
Myosclerosis, Autosomal Recessive

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