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Gene: Sox9 MGI:98371

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

SRY (sex determining region Y)-box 9

Synonyms:

2010306G03Rik

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 Sox9 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 Sox9 (7 diseases)
Human diseases predicted to be associated with Sox9 (2492 diseases)

The table below shows human diseases associated to Sox9 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Narrow chest, Tracheomalacia, 11 pairs of ribs...	ORPHA:140
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510

The table below shows human diseases predicted to be associated to Sox9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Broad long bones, Sclerosis of middle finger phalanx, Humerus varus, Fibular bowin...	ORPHA:85188
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr...	ORPHA:93307
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Anterior rib cupping, Bilateral t...	OMIM:269250
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ...	ORPHA:85166
Fibrochondrogenesis 1	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Broad long bones, Nar...	OMIM:228520
Atelosteogenesis, Type Iii	Tombstone-shaped proximal phalanges, Cervical kyphosis, Rhizomelia, Elbow dislocation, Radial bow...	OMIM:108721
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Lumbar kyphoscoli...	OMIM:156550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Ovoid...	OMIM:151210
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus...	OMIM:224300
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:607482
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h...	OMIM:602471
Léri-Weill Dyschondrosteosis	Elbow dislocation, Radial bowing, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel...	ORPHA:440354
Atelosteogenesis, Type I	Elbow dislocation, Radial bowing, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea...	OMIM:108720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con...	OMIM:210720
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo...	OMIM:602196
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Intestinal mal...	OMIM:617866
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Respiratory distress, Temporomandibular joint ankylo...	ORPHA:141152
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,...	OMIM:249710
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Calvarial hyperostos...	OMIM:112350
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Narrow chest, Micromelia, Flar...	OMIM:187601
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Sprengel an...	ORPHA:958
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Abnormal ...	OMIM:127300
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypopla...	OMIM:187600
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Kyphosis, ...	OMIM:607326
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,...	OMIM:311895
Van Den Ende-Gupta Syndrome	Thin ribs, Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Mi...	OMIM:600920
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Knee osteoarthritis, Absent frontal sinus...	OMIM:154780
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Micrognathia, Re...	OMIM:259420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowin...	ORPHA:3035
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Rickets, Bulging of the costochondral junction, ...	OMIM:264700
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Rickets, Bulging of the costochon...	OMIM:277440
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Chronic constipation, Beaking of vert...	OMIM:619636
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Cubi...	ORPHA:314795
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocat...	OMIM:164900
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Ulnar bowing, P...	OMIM:619135
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Microdontia, Short sternum, Postaxial ha...	OMIM:258850
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Orofacial cleft, Femoral retroversion...	ORPHA:79107
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Radial bowing, Elbow dislocatio...	OMIM:201250
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone...	OMIM:613848
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b...	OMIM:600081
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Thin ribs, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ...	OMIM:620076
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Dislocation of the f...	OMIM:260660
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Narrow chest, Tracheomalacia, 11 pairs of ribs...	ORPHA:140
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Abnormal diaphysis mor...	ORPHA:2021
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Cleft upper lip, Pseudobulbar paralysis, Kyphoscoliosis, Femoral retroversi...	OMIM:607371
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Tarp Syndrome	Hepatic failure, Meckel diverticulum, Clinodactyly, Micrognathia, Glossoptosis, Single transverse...	OMIM:311900
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:611880
Metaphyseal Dysplasia, Spahr Type	Metaphyseal sclerosis, Genu valgum, Osteochondritis dissecans, Bowing of the legs, Metaphyseal ch...	OMIM:250400
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Long phi...	OMIM:207410
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Cleft soft palate, Micrognathia, Metaphyseal dysplasia, A...	ORPHA:93316
Pelviscapular Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Abnormality of the joint spac...	ORPHA:93333
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Reduced systolic function, Co...	OMIM:604765
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi...	OMIM:309350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Narrow chest, Cone-shaped epiphysis, Square pelvis bone...	ORPHA:166272
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy...	OMIM:228930
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Broad phalanx, High pala...	OMIM:166250
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	ORPHA:2563
Stuve-Wiedemann Syndrome 1	Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing...	OMIM:601559
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre...	OMIM:615396
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b...	OMIM:241530
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Peroxisome Biogenesis Disorder 10A (Zellweger)	Micrognathia, Epiphyseal stippling, Death in infancy, High palate, Feeding difficulties	OMIM:614882
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r...	OMIM:615373
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
W Syndrome	Upper lip pit, Broad uvula, Radial bowing, Elbow dislocation, Clinodactyly, Pes cavus, Submucous ...	ORPHA:2804
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Blount Disease	Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin...	ORPHA:2768
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ...	OMIM:618022
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Adenylosuccinate Lyase Deficiency	Anteverted nares, Microcephaly, Brachycephaly, Short nose, Flat occiput	ORPHA:46
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Micr...	ORPHA:3144
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short foot, Short toe, Hamartoma o...	OMIM:269860
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ...	ORPHA:2779
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Lethal Recessive Chondrodysplasia	Narrow chest, Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb under...	ORPHA:1423
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplastic ilia, Lumba...	OMIM:169550
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Lobulated tongue, Hamartom...	ORPHA:2752
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Talipes equinovarus, Distal arthrogryposis, Deep phil...	OMIM:158300
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme...	ORPHA:3269
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol...	ORPHA:2839
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Epiphyseal Dysplasia, Multiple, 2	Epiphyseal dysplasia, Tibial torsion, Irregular epiphyses, Tooth agenesis, Small epiphyses, Osteo...	OMIM:600204
Bowen-Conradi Syndrome	Camptodactyly of finger, Joint stiffness, Micrognathia, Death in infancy, Orofacial cleft, Feedin...	ORPHA:1270
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving th...	ORPHA:2879
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Feeding difficulties in...	ORPHA:251028
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip disloc...	ORPHA:453510
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Shallow acetabular fossae, Proximal radio-ulnar synostosis, Radial bowing, Ulnar bowing, Limited ...	OMIM:605432
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bo...	ORPHA:1837
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, E...	ORPHA:1106
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Long fo...	OMIM:157980
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Pectus carinatum, Hypermobility of interphal...	OMIM:613849
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis	ORPHA:178377
Blount Disease, Adolescent	Osteochondritis dissecans, Genu varum, Bowing of the legs	OMIM:259200
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Respiratory distress, Missing rib...	ORPHA:66637
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Convex nasal ridge, Frontal bo...	ORPHA:1695
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car...	OMIM:613642
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Apnea, Micrognathia, Glossoptosis...	ORPHA:2886
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Abnormal...	ORPHA:175
Atelosteogenesis, Type Ii	Micrognathia, Talipes equinovarus, Short greater sciatic notch, Flat acetabular roof, Cervical ky...	OMIM:256050
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung deformity, Mi...	ORPHA:1765
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd...	OMIM:613255
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Respiratory distress, Neonatal death, Bowing of the long bones, Death in ado...	OMIM:619751
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger	OMIM:259270
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Perching Syndrome	Respiratory distress, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis, Feedin...	OMIM:617055
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Scolios...	OMIM:300934
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti...	ORPHA:294975
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608631
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Irregular dentition, Death in childhood, Prominence of the pr...	OMIM:602535
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Retrognathia, Knee dislocation, Small epiphyse...	OMIM:620269
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Clinodactyly of the 5th toe, Short sternum, Smooth philtrum, Ulnar deviation of the...	OMIM:620113
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Rhizomelia, Pectus carinatum, Osteopenia, Vertebral wedging, Bowing of...	OMIM:301014
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of...	ORPHA:971
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Decreased body weight, Microcephaly, Brachycephaly, Mandibular prognat...	ORPHA:93950
Premature Aging Syndrome, Penttinen Type	Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo...	OMIM:601812
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl...	OMIM:184250
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn...	OMIM:613697
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure	OMIM:192600
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Scarf Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Joint hypermobility, Shor...	ORPHA:3134
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis...	OMIM:231070
Pierre Robin Syndrome And Oligodactyly	Finger aplasia, Micrognathia, Cleft palate, Pierre-Robin sequence	OMIM:172880
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, ...	ORPHA:166100
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of ...	ORPHA:566943
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Glass Syndrome	Conical tooth, Dental crowding, Long philtrum, Poor suck, Apnea, Narrow mouth, Gingival overgrowt...	OMIM:612313
Autosomal Recessive Hypophosphatemic Rickets	Osteomalacia, Sclerotic vertebral endplates, Rickets of the lower limbs, Tooth abscess, Genu varu...	ORPHA:289176
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Equinovarus deformity, Elbow flexion contracture, Respiratory distress...	ORPHA:1143
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Absent radius, A...	OMIM:263650
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Hypoplastic scapulae, Limitation of joint mobility, Clinodactyly, ...	ORPHA:95699
Bowen-Conradi Syndrome	Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot, Abnormal joint morphology	OMIM:211180
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f...	ORPHA:2632
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Narrow chest, Sandal gap, Sh...	OMIM:617102
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri...	OMIM:601493
Cornelia De Lange Syndrome 1	Micrognathia, High palate, Dislocated radial head, High, narrow palate, Gastroesophageal reflux, ...	OMIM:122470
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Abnormal form of the vertebral bodies, Micromelia, Sh...	ORPHA:1801
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Chronic constipation, Feeding difficulti...	OMIM:618371
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal...	ORPHA:2631
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo...	ORPHA:1277
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Metaphyseal Dysplasia Without Hypotrichosis	Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses...	OMIM:250460
Diastrophic Dysplasia	Laryngotracheal stenosis, Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vert...	OMIM:222600
17Q21.31 Microduplication Syndrome	Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Microcephaly, Short nose	ORPHA:217340
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha...	OMIM:614524
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Camptodactyly, High...	OMIM:618393
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipe...	OMIM:612651
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Cleft soft palate, Ulnar d...	OMIM:142900
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Moebius Syndrome	Hand clenching, Clinodactyly, Micrognathia, Lower limb undergrowth, Talipes equinovarus, Feeding ...	OMIM:157900
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Delayed eruption of teeth, Absent paranasal ...	OMIM:265900
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster...	OMIM:608636
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, ...	ORPHA:2347
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Microcephaly, Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Short 5th finger, Tooth malposition, Micrognathia, 2-3 toe syndactyly, Thin upper lip vermilion, ...	OMIM:618608
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Wide anterior fontanel, Rhizomelia, Narrow chest, Gastroesophageal reflux, Bowel i...	OMIM:616482
Scarf Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the ver...	OMIM:312830
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Macroglossia, Increased density of long bones, Short 1st metacarp...	OMIM:269150
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart fai...	OMIM:620635
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal...	OMIM:200700
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Lower limb asymmetry, Abnormal ulnar metaphysis ...	ORPHA:85198
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy	OMIM:606053
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent...	OMIM:613424
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Metaphyseal spurs, Posterior rib cupping, Micromelia, Irregular epiphyses, Thoraci...	OMIM:608728
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Depressed nasal bridge, Failure to thrive, Micrognathia, Microcephaly, Brachycephaly, Progressive...	OMIM:620240
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me...	OMIM:609324
Pierre Robin Syndrome	Micrognathia, Feeding difficulties in infancy, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, High palate, Cleft lip, Knee fle...	OMIM:619110
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Arthrogryposis, Distal, Type 3	Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Thoracolumbar sc...	OMIM:114300
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor...	ORPHA:3098
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
Autism	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:607373
Peroxisome Biogenesis Disorder 8A (Zellweger)	Death in infancy, Feeding difficulties in infancy, Epiphyseal stippling, Glossoptosis	OMIM:614876
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Potocki-Shaffer Syndrome	Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Prominent nas...	ORPHA:52022
Achondrogenesis, Type Ii	Microretrognathia, Stillbirth, Long philtrum, Broad long bones, Short tubular bones of the hand, ...	OMIM:200610
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo...	ORPHA:53697
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Anteverted nares, Micrognathia, Ingu...	OMIM:615834
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Gastroesophageal reflux, Camptodactyly of finger, Respiratory distress, Ta...	OMIM:614399
Multiple Synostoses Syndrome 3	Cutaneous syndactyly of toes, Broad thumb, Broad hallux, Humeroradial synostosis, Hallux varus, L...	OMIM:612961
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit...	OMIM:614078
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili...	ORPHA:2639
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, Retrognathia	ORPHA:2528
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Gastroesophageal reflux, Overtubulated long bones, R...	OMIM:619793
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi...	ORPHA:2370
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr...	OMIM:614669
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Turricephaly, Brachycephaly, Sho...	OMIM:601224
Hypophosphatasia, Childhood	Carious teeth, Rachitic rosary, Premature loss of primary teeth, Craniosynostosis, Bowing of the ...	OMIM:241510
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Tongue fasciculations, Interphalangeal joint contracture of finger, El...	ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Long philtrum, Thoracic hypoplasia, Respiratory distr...	OMIM:617895
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Single transverse...	OMIM:611890
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,...	ORPHA:2759
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Brachycephaly, Macrocephaly	OMIM:300699
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1988
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Agenesis of permanent teeth, Cleft soft palate, Short h...	OMIM:216300
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Micrognathia, Malar flattening, Triangular mouth, Short sternum, Feeding difficult...	OMIM:257300
Donnai-Barrow Syndrome	Intestinal malrotation, Short sternum, Malar flattening, Wide anterior fontanel	OMIM:222448
Whistling Face Syndrome, Recessive Form	Whistling appearance, Ulnar deviation of finger, Microglossia, Shoulder flexion contracture, Long...	OMIM:277720
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrod...	ORPHA:85165
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ...	OMIM:616583
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Ab...	OMIM:602557
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Plagiocephaly, Platystencephaly, Anteverted nares,...	OMIM:618774
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n...	ORPHA:93308
Rhiny	Anteverted nares, Inguinal hernia, Short nose	OMIM:180360
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Spondyloepiphyseal Dysplasia Congenita	Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel...	OMIM:183900
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Satb2-Associated Syndrome Due To A Pathogenic Variant	Bifid uvula, Abnormality of the dentition, Broad thumb, Lower limb asymmetry, Osteopenia, Celiac ...	ORPHA:576283
Familial Anetoderma	High, narrow palate, Abnormal tibia morphology, Lumbar hyperlordosis, Irregular dentition, Genera...	ORPHA:228277
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Dysostosis Multiplex, Ain-Naz Type	Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte...	OMIM:619345
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downturned corners of mou...	ORPHA:93267
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscol...	OMIM:618853
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synostosis, High palate, Dysphagia...	ORPHA:798
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Diaphanospondylodysostosis	Thoracic hypoplasia, Tracheomalacia, Respiratory distress, Micrognathia, Bell-shaped thorax, Abse...	OMIM:608022
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v...	OMIM:608751
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Short distal phalanx of finger, Joint dislocation, Short toe, Abnormal mandi...	ORPHA:3201
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Genu varum, V...	ORPHA:89936
Mucopolysaccharidosis, Type Ix	Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Wrist hypermobility, Periarticular soft-...	OMIM:601492
N-Acetylaspartate Deficiency	Broad-based gait, Self-mutilation, Truncal ataxia, Unsteady gait, Motor stereotypy	OMIM:614063
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Clark-Baraitser Syndrome	Depressed nasal bridge, Obesity, Anteverted nares, Microcephaly, Brachycephaly, Dolichocephaly, L...	OMIM:617752
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Delayed cranial suture closure, Respiratory distress, Gingival overgrowth, Median c...	ORPHA:1832
Exostoses, Multiple, Type Ii	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Scapular exostoses, P...	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Genu valgum, Protuberances at ends of long bones, Coxa vara, Scapular exostoses, P...	OMIM:133700
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped...	ORPHA:1803
Ulnar-Mammary Syndrome	Hypoplastic scapulae, Short 5th toe, Absent radius, Anal atresia, Short 5th finger, Hypodontia, P...	OMIM:181450
Joubert Syndrome 18	Retrognathia, Trident pelvis, Kyphoscoliosis, Bowing of the long bones, Postaxial polydactyly, Ta...	OMIM:614815
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin...	ORPHA:2484
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta, Bowing of the arm, Increased susceptibility to fractures, Biconcave ve...	OMIM:613982
Hypocalcemic Vitamin D-Resistant Rickets	Abnormality of the dentition, Joint dislocation, Abnormal form of the vertebral bodies, Coarse me...	ORPHA:93160
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Failure to thrive in infancy, Obesity, Malar flattening, Macroceph...	OMIM:613670
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Asymmetry of the thorax, High iliac wing, Coarse metaphyseal tr...	ORPHA:2780
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Talipes equinovarus, Rocker bottom foot, Arthrogryposis multiplex congenita, Cleft ...	OMIM:616570
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Micrognathia, Joint hypermobility, Deep philtrum, Large hands, Thick vermil...	OMIM:102150
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h...	OMIM:222765
Achondrogenesis, Type Ib	Hypoplastic ilia, Narrow chest, Micromelia, Stillbirth, Absent or minimally ossified vertebral bo...	OMIM:600972
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis b...	ORPHA:1426
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver...	OMIM:610967
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Furrowed tongue, Abnormal distal phalanx morphology...	ORPHA:1387
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Beaking of vertebral bodie...	ORPHA:239
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Narrow nasal bridge, Inguinal hernia, Microcephaly, Flexion contracture, Short...	OMIM:618379
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Whistling appearance, Downturned corners of mouth, Abnormal shoulder morphology, Joint stiffness,...	ORPHA:1150
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Bell-shaped thorax, Short hard palate, High palat...	OMIM:117650
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Achondrogenesis Type 1A	Narrow chest, Abdominal distention, Micromelia, Long philtrum, Abnormal enchondral ossification, ...	ORPHA:93299
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Elb...	OMIM:617468
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Brachyc...	OMIM:618577
Endocardial Fibroelastosis	Hypoplasia of penis, Restrictive cardiomyopathy, Cryptorchidism, Congestive heart failure	ORPHA:2022
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly, Mandibular prognathia	OMIM:309545
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W...	OMIM:619131
Left Ventricular Noncompaction 1	Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg...	OMIM:604169
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Micrognathia, Death in infa...	OMIM:241800
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Craniometadiaphyseal Dysplasia	Wide anterior fontanel, Mandibular prognathia, Carious teeth, Natal tooth, Dental crowding, Flare...	OMIM:269300
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split foot, Malar flattening, Split hand, Cleft palate	OMIM:183700
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath...	ORPHA:56304
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Genu valgum, Micrognathia, Pes planus, Splayed toes, Celiac ...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Pes planus, Splayed toes, Celiac ...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Pes planus, Splayed toes, Celiac ...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Genu valgum, Micrognathia, Pes planus, Splayed toes, Celiac ...	ORPHA:881
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Umbilical hernia, Obesity, Anteverted nares, Short columella, Micrognathi...	ORPHA:171839
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move...	ORPHA:94068
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microglossia, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial c...	ORPHA:1972
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Hand clenching, Micrognathia, Narrow mouth, Death in childhood, Death in infancy, Feeding difficu...	OMIM:618766
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Gastroesophageal reflux, Joint dislocation, Retrognathia, Rickets, Abnormal joint mor...	ORPHA:1901
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:619150
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Epiphyseal dysplasia, Premature osteoarthritis, Malar flattening, Enlarged epiphys...	OMIM:184840
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Abnormality of the ankle, Aplasia/Hypoplasia of the radius, Microgloss...	ORPHA:1307
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acetabular roof,...	ORPHA:163649
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Autosomal Recessive Stickler Syndrome	Platyspondyly, Epiphyseal dysplasia, Abnormal epiphysis morphology, Genu valgum, Micrognathia, Ma...	ORPHA:250984
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Azoospermia, Oligozoospermia, Hypertension, Myocardial infarction	OMIM:615703
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Short toe, Microme...	ORPHA:429
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Umbilical hernia, Micrognathia, Inguinal hernia, Decreased body we...	OMIM:600325
Fraxe Intellectual Disability	Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b...	ORPHA:100973
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Bulbous nose, Anteverte...	OMIM:613792
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Pierpont Syndrome	Malar flattening, Wide nasal ridge, Abnormal subcutaneous fat tissue distribution, Brachycephaly,...	ORPHA:487825
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Hama...	OMIM:616300
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Feeding difficulties in infancy, Submucous...	ORPHA:2712
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Abnormality of the sphenoid sinus, Bowing of the long bo...	ORPHA:249
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Pseudodiastrophic Dysplasia	Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Brachycephaly, Camptodactyly...	OMIM:264180
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Micrognathia, Microcephaly, Brachycephaly, Joint contracture, Slender nose, Short nose	OMIM:615419
Gómez-López-Hernández Syndrome	Brachycephaly, Anteverted nares, Turricephaly	ORPHA:1532
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
Familial Isolated Dilated Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:154
Ring Chromosome 8 Syndrome	Anteverted nares, Frontal bossing, Short nose	ORPHA:1450
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu...	OMIM:613091
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Coffin-Siris Syndrome 1	Aplasia/Hypoplasia of the patella, Feeding difficulties in infancy, High palate, Duodenal ulcer, ...	OMIM:135900
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact...	ORPHA:2633
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Microretrognathia	ORPHA:2867
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Clark-Baraitser syndrome	Genu recurvatum, Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thic...	OMIM:300602
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Platyspondyly, Osteopenia, Fractures of the long bones, Equinovarus deformi...	ORPHA:319195
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Anteverted nares, Micrognathia, Short nose	ORPHA:2015
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Narrow chest, Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Aplasia of the epiglo...	OMIM:617088
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Broad foot, Talipes equinovarus, 2-3 finger syndac...	OMIM:312870
Orofaciodigital Syndrome Xix	Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br...	OMIM:620107
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Hypogonadotropic h...	OMIM:602390
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi...	ORPHA:3320
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Chromosome 1P35 Deletion Syndrome	Feeding difficulties, Micrognathia, Narrow mouth, Joint hypermobility, Thin upper lip vermilion, ...	OMIM:617930
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Flexion contracture, Wrist hypermobility, Joint hypermobility, Gastrostomy ...	ORPHA:544503
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Micrognathia, Hip contracture, Talipes, High palate, Tube feeding, Tapered toe, Thorac...	OMIM:620369
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Anterior ...	OMIM:271665
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Pierpont Syndrome	Broad nasal tip, Failure to thrive, Malar flattening, Decreased body weight, Microcephaly, Brachy...	OMIM:602342
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Feeding dif...	ORPHA:226313
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Narrow chest, Limitation of joint mobility, Micromelia, Equinovaru...	OMIM:224400
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Failure to thrive in infancy, Bulbous nose, Prominent nose, Anteverted nares, Prom...	OMIM:616801
Congenital Syphilis	Periostitis, Diarrhea, Hyperplasia of the maxilla, Malabsorption, Tibial bowing, Synovitis, Osteo...	ORPHA:499009
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Coronal craniosynostosis, Osteopenia, Natal tooth, Abnormal per...	ORPHA:313855
Atransferrinemia	Congestive heart failure	OMIM:209300
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Shagreen patch, Narrow nasal bridge, Malar flattening, Microcephaly, Brachycephaly, Abnormal zygo...	ORPHA:2511
Congenital Disorder Of Glycosylation, Type Iiy	Microcephaly, Brachycephaly	OMIM:620200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Broad lo...	ORPHA:1865
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Tongue atrophy, Hypermobility of distal interphalangeal joints, Elbow...	OMIM:615065
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ...	OMIM:118651
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A...	ORPHA:2919
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Abnormality of ...	OMIM:241500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Sporadic Fetal Brain Disruption Sequence	Microcephaly, Plagiocephaly, Prominent occiput	ORPHA:1665
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,...	ORPHA:2167
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Chronic constipation, Broad philtrum, Abdominal distention, Pect...	ORPHA:3010
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Pe...	OMIM:251450
Craniometaphyseal Dysplasia, Autosomal Dominant	Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu...	OMIM:123000
Sheldon-Hall Syndrome	Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla...	ORPHA:1147
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Bilateral single transverse palmar creases, Talip...	ORPHA:3310
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B...	ORPHA:50945
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Summitt Syndrome	Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Obesity, Macrocephaly, Craniosynos...	ORPHA:3210
Spinal muscular atrophy, type I, with congenital bone fractures	Congenital hip dislocation, Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal f...	OMIM:271225
Radio-Renal Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Micromelia, Downturned corners of mou...	ORPHA:3015
Metaphyseal Anadysplasia 2	Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin...	OMIM:613073
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistent open anterior fontanelle, Delayed eru...	OMIM:265800
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal palate morphology, Abnormal r...	ORPHA:1506
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Small for gestational age	OMIM:618302
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension	ORPHA:1345
Xq28 (MECP2) duplication	Depressed nasal bridge, Failure to thrive, Malar flattening, Microcephaly, Brachycephaly	DECIPHER:45
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Weaver Syndrome	Broad thumb, Sandal gap, Finger syndactyly, Camptodactyly of finger, Long philtrum, Retrognathia,...	ORPHA:3447
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bulbous nose, Anteverted nares, Decreased body weight, Microcephaly, Brachycep...	OMIM:300958
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, High, narrow palate, Hypoplasia ...	ORPHA:2554
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Talipes equinovarus, Feeding d...	OMIM:611209
Congenital Heart Defects And Ectodermal Dysplasia	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Microcephaly, Brachycephaly, Fr...	OMIM:617364
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnormal palate morpholog...	ORPHA:1278
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d...	OMIM:608799
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Brachyc...	ORPHA:776
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,...	ORPHA:2972
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Bent Bone Dysplasia Syndrome 1	Coronal craniosynostosis, Natal tooth, Gingival overgrowth, Micrognathia, Bell-shaped thorax, Mal...	OMIM:614592
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Brachydactyly	OMIM:614526
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Seve...	OMIM:620639
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he...	OMIM:612350
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Microcephaly, Brachycephaly, Failure to thrive	OMIM:309541
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr...	ORPHA:1406
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Brachycephaly, Craniosynostosis	OMIM:612247
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,...	OMIM:609616
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Cleft soft palate, Micrognathia, Aplasia/Hypoplasia of the ribs, Pec...	OMIM:606851
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Turricephaly, Brachycephaly, Convex...	ORPHA:93262
Ck Syndrome	Dental crowding, Retrognathia, Micrognathia, Abnormal cortical bone morphology, Malar flattening,...	OMIM:300831
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Frontal bossing	OMIM:264470
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Bifid uvula, Irregular femoral epiphysis, M...	OMIM:108300
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Craniosynostosis, Herrmann-Opitz Type	Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Convex nasal ridge, Craniosynostosis...	ORPHA:2145
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda...	ORPHA:90650
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Retrognathia, Abnormal lip morphology, Respiratory distress, Long foot, Abno...	ORPHA:2707
Congenital Left Ventricular Aneurysm	Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca...	ORPHA:156728
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Bilateral single transverse pal...	OMIM:216340
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So...	OMIM:602418
Coxopodopatellar Syndrome	Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ...	ORPHA:1509
Chromosome 3Q29 Deletion Syndrome	Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st...	OMIM:609425
Achondrogenesis	Umbilical hernia, Anteverted nares, Micrognathia, Inguinal hernia, Macrocephaly, Frontal bossing,...	ORPHA:932
Coffin-Siris Syndrome 11	Bifid uvula, Small hand, Downturned corners of mouth, Cleft soft palate, Feeding difficulties in ...	OMIM:618779
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Occipital Horn Syndrome	Synostosis of joints, Delayed cranial suture closure, Osteomalacia, Humerus varus, Genu valgum, E...	ORPHA:198
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelia, Flared metaphysis, Epiphyseal stippling, Micrognathia, Malar flattening, Calcific sti...	OMIM:215100
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Narro...	OMIM:201170
Mosaic Trisomy 14	Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans...	ORPHA:1703
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Depressed nasal ridge, Plagiocephaly, Anteverted nares, Prominent occiput, Malar flattening, Brac...	OMIM:618672
Acrocephalopolydactyly	Genu recurvatum, Thoracic hypoplasia, Limb undergrowth, Brachydactyly, Short long bone, Protubera...	ORPHA:221054
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Achard Syndrome	Brachycephaly, Micrognathia, Broad skull	OMIM:100700
Perlman Syndrome	Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Inguinal hernia, Macrocephaly, D...	ORPHA:2849
Trigonocephaly 1	Wide nasal bridge, Trigonocephaly, Microcephaly, Omphalocele, Craniosynostosis, Short nose	OMIM:190440
Pentasomy X	Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Hip dysplasia, Clinodac...	ORPHA:11
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Decrea...	ORPHA:3472
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Gastroesophageal reflux, Clinodactyly, Micrognathia, Open mouth, Single transverse palmar crease,...	OMIM:613604
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Micrognathia, Feeding difficulties, Glossoptosis, Cleft palate, Hyperextensibil...	OMIM:618356
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Failure to thrive, Inguinal hernia, Microcephaly, Brachycephaly	OMIM:618603
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Micrognathia, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, High palate, S...	OMIM:248910
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Agitation	OMIM:617171
Chung-Jansen Syndrome	Long philtrum, Micrognathia, Joint hypermobility, Short philtrum, Hip dysplasia, Thin vermilion b...	OMIM:617991
Developmental And Speech Delay Due To Sox5 Deficiency	Narrow palate, Pectus carinatum, Gastroesophageal reflux, Exaggerated median tongue furrow, Denta...	ORPHA:313892
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Retrognathia, Avascular necrosis of the capital femoral epiphysis, Micrognathi...	ORPHA:1899
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Plagiocephaly, Macrocephaly	OMIM:618725
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	High palate, Abnormal metacarpal morphology, Abnormal morphology of ulna	ORPHA:2233
Craniosynostosis 2	Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Wormian bones, Triphalangeal thum...	OMIM:604757
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft palate	ORPHA:2521
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Recurrent fractures, Thickened cortex of long bones, Toru...	OMIM:607634
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Osteop...	OMIM:620099
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Plagiocephaly, Failure to thrive, Microcephaly, Brachycephaly, Macrocephal...	OMIM:619721
Antley-Bixler Syndrome	Narrow chest, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delayed c...	ORPHA:83
Shwachman-Diamond Syndrome 1	Narrow chest, Proximal femoral epiphysiolysis, Respiratory distress, Exocrine pancreatic insuffic...	OMIM:260400
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Dental crowding, Long philtrum, Feeding difficulties, Micrognathia...	ORPHA:251019
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Joint hypermobili...	ORPHA:1777
Craniofrontonasal Dysplasia	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Midline defect ...	ORPHA:1520
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Ullrich Congenital Muscular Dystrophy	Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Increased laxity...	ORPHA:75840
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Radial head subluxation, Advanced ossi...	OMIM:615777
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Cornelia De Lange Syndrome 5	Depressed nasal bridge, Broad nasal tip, Retrognathia, Anteverted nares, Prominent nasal bridge, ...	OMIM:300882
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Microcephaly, Obesity, Brachycephaly	ORPHA:352530
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar synostosis...	ORPHA:536467
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Trigonocephaly, Anteverted nares, Microcephaly, Delayed eruption of permanent teeth, Short nose	OMIM:618506
Fetal Trimethadione Syndrome	Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Short nose	ORPHA:1913
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Micrognathia, Gingival overgrowth, Pec...	ORPHA:2013
Moebius Syndrome	Finger syndactyly, Micrognathia, Open mouth, Aplasia/Hypoplasia of the thumb, Talipes equinovarus...	ORPHA:570
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Short thumb, Overlapping toe, Micrognathia, Ar...	ORPHA:436003
Rhizomelic Syndrome	Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Hip dislocation, Wide anterior fonta...	OMIM:268250
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Primary microcephaly, Small for gestational age, Short nose	OMIM:245570
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Syndactyly, Pectus carin...	OMIM:614701
Congenital Myopathy 20	Congenital contracture, Short finger, Elbow contracture, Toe joint contracture, Micrognathia, Tal...	OMIM:620310
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Delayed eruption of teeth, Abnormal dental enamel morpholo...	ORPHA:2050
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Retrognathia, Micrognathia, Decreased calvarial ossification, Brach...	OMIM:618265
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short columella, Dental malocclusion, Short nose	OMIM:155050
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Gastroesophageal reflux, Elbow dislocation, Clinodactyly, Slender long...	OMIM:613805
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Multiple lipomas, Macrocephaly, Frontal bossing, Short nose	ORPHA:210548
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Clinodactyly, Downturned corners of mouth, Anteriorly placed anus, Respiratory dist...	OMIM:217980
Acropectorovertebral Dysplasia	High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin...	ORPHA:957
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Feeding...	ORPHA:3206
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Elbow dislocation, Micromelia, Abnormal ti...	ORPHA:2634
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Abnormality of the dentition, Femoral bowing, Micrognathia, Biconcave vertebral bodies...	OMIM:617952
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Long philtrum, Cam...	OMIM:601680
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short columella, Abnorm...	ORPHA:1248
Hemochromatosis, Type 2B	Hypogonadism, Cardiomyopathy, Congestive heart failure	OMIM:613313
Atelosteogenesis Type I	Platyspondyly, Laryngotracheal stenosis, Rhizomelia, Narrow chest, Joint dislocation, Thoracic hy...	ORPHA:1190
Myhre Syndrome	Platyspondyly, Bifid uvula, Gingival cleft, Hypoplasia of the maxilla, Abnormal epiphysis morphol...	ORPHA:2588
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micrognat...	ORPHA:2522
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Respiratory distress, Micrognathia, Death in infancy, Thin upper lip verm...	OMIM:615042
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Anterior ...	OMIM:253000
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Neonatal death, Congesti...	OMIM:614096
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A...	ORPHA:52056
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti...	ORPHA:83468
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Epilepsy, Progressive Myoclonic, 9	Microglossia, Scoliosis, Short thumb	OMIM:616540
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Brachyce...	OMIM:615761
Omodysplasia 2	Gastroesophageal reflux, Broad femoral neck, Short 1st metacarpal, Long philtrum, Limited elbow f...	OMIM:164745
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Abnormal hip bone morphology, Micrognathia, Abnormal lower lip morphology, Joint ...	ORPHA:1166
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Elbow flexion contracture, Clubbi...	OMIM:256040
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Osteogenesis Imperfecta, Type Xiii	Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femoral metaphysis, Femoral...	OMIM:614856
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Seckel Syndrome 1	Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Cone-sha...	OMIM:210600
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Pontocerebellar Hypoplasia, Type 3	Depressed nasal bridge, Brachycephaly, Progressive microcephaly, Decreased body weight	OMIM:608027
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Beaking of vertebral bodies, Thoracolumbar ...	ORPHA:457395
Cerebrooculofacioskeletal Syndrome 4	Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Steep a...	OMIM:610758
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Elbow dislocatio...	ORPHA:968
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Adducted thumb, Rocker bottom foot, Dysphagia, Feeding d...	ORPHA:89844
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Tented upper lip vermilion, Micrognathia, Hypoventilation, Polydacty...	ORPHA:314655
Cohen Syndrome	Finger syndactyly, Genu valgum, Open mouth, Micrognathia, Narrow palm, Arachnodactyly, Feeding di...	ORPHA:193
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Micrognathia, Joint hypermobility, Short philtrum, High palate, Short f...	ORPHA:254531
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy	OMIM:617830
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Gastroesophageal reflux, Metaphyseal spurs, R...	OMIM:618188
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Thoracic hypoplasia, Short middle ph...	ORPHA:15
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Failure to thrive, Retrognathia, P...	OMIM:620157
6Q25 Microdeletion Syndrome	Wide nasal bridge, Plagiocephaly, Failure to thrive, Camptodactyly of finger, Micrognathia, Malar...	ORPHA:251056
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Lower limb asymmetry, Tooth agenesis, Abnormality of the wrist, Abnormal femur mor...	ORPHA:2063
Chromosome 16Q22 Deletion Syndrome	Narrow chest, Broad hallux, Poor suck, Micrognathia, Single transverse palmar crease, Wormian bon...	OMIM:614541
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Tooth agenesis, Decreased...	OMIM:616229
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Micrognathia,...	ORPHA:77300
Myopathic Ehlers-Danlos Syndrome	Joint contracture of the hand, Micrognathia, Talipes equinovarus, Pes planus, Patellar subluxatio...	ORPHA:536516
Achondrogenesis Type 1B	Umbilical hernia, Anteverted nares, Micrognathia, Macrocephaly, Femoral hernia, Frontal bossing, ...	ORPHA:93298
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
3M Syndrome	Thin ribs, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow, Increased v...	ORPHA:2616
17P13.3 Microduplication Syndrome	Frontal bossing, Inguinal hernia, Short nose, Wide nose	ORPHA:217385
Auriculocondylar Syndrome 4	Micrognathia, Apnea, Narrow mouth, Glossoptosis, Cleft palate	OMIM:620457
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly, Macrocephaly	ORPHA:459074
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Limitation of...	ORPHA:93259
Cornelia De Lange Syndrome 2	Anteverted nares, Micrognathia, Prominent nasal bridge, Microcephaly, Brachycephaly	OMIM:300590
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Turricephaly, Brach...	ORPHA:207
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Brachycephaly, ...	ORPHA:2077
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Pectus carinatum, Carious teeth, Joint dislocation, ...	ORPHA:582
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer...	OMIM:616716
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Sandal gap, Poor suck, Respiratory distress, Butterfly vertebrae, Short ...	OMIM:607143
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Left ventricular outflow t...	OMIM:614980
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis...	OMIM:271700
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Anteverted nares	OMIM:618859
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Slender build, Prominent nasal bridge, Macrocephaly, Mandibular progna...	OMIM:300676
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure	OMIM:300886
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pes planu...	OMIM:190350
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Brachycephaly, Mandibular prognathia, Inguinal hernia	ORPHA:85290
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Bilateral...	OMIM:253010
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot...	OMIM:250420
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Macrocephaly, Mandibular prognathia, Truncal obesity, Short nose	ORPHA:2429
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Micrognathia, Wormian bones, ...	ORPHA:2863
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hip dislocation, Hand clenching, Arthrogryposis multiplex congenita, ...	OMIM:618291
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Pectus carinatum, Long philtrum, Delayed cranial suture closure, Respiratory distress, Poor suck,...	OMIM:619383
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Feeding difficulties in infancy, Pes planus...	OMIM:212720
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Narrow chest, Slender long bone, Patellar hypoplasi...	OMIM:613803
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Dental malocclusion, Camptodactyly of finger, Anteverted nares, Abnormali...	ORPHA:1327
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Polydactyly, Vertebral segmentation defe...	ORPHA:531151
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Downturned corners of mouth, Clinodactyly, Micrognathia, Feeding difficulties in infa...	ORPHA:254525
Van Bogaert-Hozay Syndrome	Tooth malposition, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hy...	OMIM:277150
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Failure to thrive, Retrognathia, Prominent nasal bridge, Decreased body weight...	OMIM:617452
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Pes planus, Broad phalanx, ...	OMIM:615222
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morph...	ORPHA:2636
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion contracture...	OMIM:272430
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Obesity, Microcephaly, Macrocephaly, Short nose	OMIM:611936
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irre...	ORPHA:263463
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre...	OMIM:146300
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Failure to thrive, Generalized lipodystrophy, Slender build, Congenita...	OMIM:608154
Orofacial Cleft 13	Micrognathia, Cleft soft palate, Oligodontia	OMIM:613857
Wieacker-Wolff Syndrome	Broad alveolar ridges, Narrow chest, Kyphosis, Retrognathia, Long philtrum, Arthrogryposis multip...	OMIM:314580
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla...	ORPHA:989
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Oligodontia, Hypodontia, ...	OMIM:613823
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Obesity, Brachycephaly, Macrocephaly, Fronta...	OMIM:618430
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Abnormal foot morphology, Flexion contracture, Tongue atrophy, Hip disloca...	OMIM:614678
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Slender finger, Bifid uvula, Cutaneous syndactyly of toes, Small hypothenar ...	ORPHA:2872
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Broad nasal tip, Hypoplasia of...	OMIM:136760
Loeys-Dietz Syndrome 5	Cleft soft palate, Arachnodactyly, Talipes equinovarus, Eosinophilic infiltration of the esophagu...	OMIM:615582
Intellectual Developmental Disorder, X-Linked 91	Obesity, Short nose	OMIM:300577
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu...	OMIM:251230
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Micrognathia, Congenital diaphragmatic hernia, Microceph...	OMIM:263210
Intellectual Developmental Disorder, Autosomal Dominant 74	Microcephaly, Prominent nose, Brachycephaly	OMIM:620688
Williams-Beuren Region Duplication Syndrome	Broad nasal tip, Failure to thrive, Micrognathia, Brachycephaly, Macrocephaly, Small for gestatio...	OMIM:609757
Developmental And Epileptic Encephalopathy 30	Motor stereotypy, Death in infancy	OMIM:616341
Stickler Syndrome, Type Ii	High, narrow palate, Bifid uvula, Micrognathia, Malar flattening, Arthropathy, Arachnodactyly, Jo...	OMIM:604841
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Joint contracture of the hand, Secondary microcephaly, Anteverted nares, ...	OMIM:179613
Marshall-Smith Syndrome	Slender long bone, Retrognathia, Gingival overgrowth, Open mouth, Protruding tongue, Increased su...	ORPHA:561
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Thick vermilion b...	ORPHA:500095
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Dental malocclusion, Malar flattening, Brachycephaly, Ma...	OMIM:602849
Coffin-Siris Syndrome 6	High, narrow palate, Gastroesophageal reflux, Clinodactyly, Retrognathia, Micrognathia, Kyphoscol...	OMIM:617808
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Failure to thrive, Microcephaly, Brachycephaly, Lipodystrophy, Frontal bo...	OMIM:608776
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Long thorax, Abnormal oral frenulum morph...	ORPHA:1752
Cednik Syndrome	Hypogonadism, Congestive heart failure	ORPHA:66631
Bardet-Biedl Syndrome 8	Brachycephaly, Obesity	OMIM:615985
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Feeding diff...	ORPHA:1328
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Laryngeal stenosis, Horizontal ribs, Bell-shaped thor...	OMIM:187760
Mandibulofacial Dysostosis, Guion-Almeida Type	Slender finger, Preaxial hand polydactyly, Respiratory distress, Micrognathia, Malar flattening, ...	OMIM:610536
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Abnormal epiphysis morphology, Carpal osteolysis, Wrist swelling, Camptodactyly of finger, Metaca...	ORPHA:2774
Sandhoff Disease	Congestive heart failure	ORPHA:796
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy, Inability to walk	OMIM:617820
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Lower limb asymmetry, Long philtrum, Respi...	OMIM:300968
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet...	OMIM:225500
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Brachycephaly, Primary microcephaly...	OMIM:618828
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Pectus carin...	ORPHA:77258
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hypoplastic iliac wing, Mic...	ORPHA:763
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Turricephaly, Brachycephaly, Macrocephaly, Craniosynostosis, Low...	OMIM:613174
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Thick vermilion border, Pectu...	OMIM:617180
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Abnormal metacarpal m...	ORPHA:251014
Familial Cutaneous Collagenoma	Angina pectoris, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Joint dislocation, Long philtrum, Avascular necrosis of the capital...	ORPHA:502
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Enlarged naris, Short columella, Micrognathia, Hernia, Slender nose, Microceph...	ORPHA:562528
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Depressed nasal bridge, Brachycephaly, Frontal bossing, Craniosynostosis	ORPHA:314575
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity	OMIM:619470
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Unilateral cleft lip, Flared metaphysis, Thoracic hypoplasia, Decrease...	OMIM:616897
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Joint hypermobility, Short clavicles, Short 4th metacarpal,...	OMIM:606220
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Microcephaly, Brachycephaly	ORPHA:320385
Larsen-Like Syndrome	Dental malocclusion, Malar flattening, Absent nasal bridge, Brachycephaly, Macrocephaly, Frontal ...	OMIM:608545
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Plagiocephaly, Obesity, Micrognathia, Macrocephaly	OMIM:618821
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco...	OMIM:616507
Short Stature-Micrognathia Syndrome	Rhizomelia, Gastroesophageal reflux, Broad femoral neck, Retrognathia, Feeding difficulties, Micr...	OMIM:617164
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Delayed cranial su...	ORPHA:2457
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Retrognathia, Respiratory distress, Death in infancy, Joint hypermobility, Neonatal de...	OMIM:300219
X-Linked Intellectual Disability, Porteous Type	Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight	ORPHA:93945
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Abnormal dental enamel ...	ORPHA:439822
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Gastroesophageal reflux, Congenital contracture, Pursed lips, Long philtrum, Elbow flexion contra...	OMIM:616266
Garg-Mishra Progeroid Syndrome	Platyspondyly, Thin ribs, Narrow chest, Dental crowding, Slender long bone, Persistent open anter...	OMIM:620601
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Long philtrum, Broad ribs, Joint...	ORPHA:370930
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Malar flattening, Single transverse palmar crease, Brachydactyly, Sh...	OMIM:101805
Tetrasomy 5P	Long philtrum, Respiratory distress, Overlapping toe, Micrognathia, Talipes equinovarus, Short ha...	ORPHA:3309
Frontonasal Dysplasia 2	Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Broad columell...	OMIM:613451
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening, Macrocephaly, Short nose	ORPHA:2835
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Trigonocephaly, Short nose	OMIM:300581
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Elbow ankylosis,...	ORPHA:2658
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Fibular aplasia, Micrognathia, Ta...	ORPHA:56305
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Low-set ears, Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivit...	OMIM:618718
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Everted upper lip vermilion, Gingival overgrowth, Micrognathia, Thin upper lip vermilion, Deep ph...	OMIM:618381
Autosomal Recessive Omodysplasia	Rhizomelia, Elbow dislocation, Micromelia, Long philtrum, Pterygium, Abnormal femur morphology, M...	ORPHA:93329
Typical Nemaline Myopathy	Narrow chest, Kyphosis, Arthrogryposis multiplex congenita, Nocturnal hypoventilation, Genu valgu...	ORPHA:171436
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Thoracic hypoplasia, Long philtrum, Widely spaced teeth, Trident pelvis, Short ling...	OMIM:619479
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Micrognathia, Inguinal hernia, Microce...	OMIM:613544
Chopra-Amiel-Gordon Syndrome	Flared nostrils, Thick nasal alae, Microcephaly, Brachycephaly, Macrocephaly	OMIM:619504
19P13.3 Microduplication Syndrome	Gastroesophageal reflux, Clinodactyly, Pes cavus, Narrow mouth, Thick vermilion border, Micrognat...	ORPHA:447980
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Kinsship Syndrome	Ankyloglossia, Micrognathia, Chronic constipation, Pes planus, Dislocated radial head, Hip disloc...	OMIM:619297
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular f...	OMIM:540000
Crisponi Syndrome	Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Micrognathia, Narrow mouth,...	ORPHA:1545
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Microcephaly, Brachycephaly	OMIM:615031
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Depressed nasal bridge, Trigonocephaly, Scaphocephaly, Micrognathia, Inguinal hernia, Brachycepha...	ORPHA:459061
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Nasal regurgitation, Gastroesoph...	ORPHA:98914
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su...	OMIM:612447
Congenital Myasthenic Syndrome	Congenital hip dislocation, Pectus carinatum, Microretrognathia, Nasal regurgitation, Gastroesoph...	ORPHA:590
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Flat occiput, Failure to thrive, Retrognathia, Prominent nasal bridge, Decreased body weight, Mic...	ORPHA:505237
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Micrognathia, Malar flattenin...	ORPHA:93328
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Long philtrum, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Thin upper li...	OMIM:616549
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Brachycephaly, Low insertion of colum...	OMIM:619995
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Small hand, Clinodactyly, Feeding difficulties, Micrognathia, Narrow mouth, Joint hy...	ORPHA:96184
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Neonatal death, Anal atresia, Cleft lip, Hamartoma of ton...	OMIM:617925
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, No...	ORPHA:245
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Brachycephaly, Flexion contracture, Short nose	OMIM:218000
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op...	ORPHA:1507
Intellectual Developmental Disorder, Autosomal Recessive 35	Clinodactyly, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Thin up...	OMIM:615162
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Median cleft upper lip, High palate, Cleft palate, Syndactyly	OMIM:300484
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Short fourth meta...	OMIM:616723
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Anteriorly placed anus, Preaxial polydactyly, Hamartoma of ...	OMIM:615948
Duodenal Atresia	Annular pancreas, Abnormality of the pancreas	ORPHA:1203
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Clinodactyly, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Hypoplasia...	ORPHA:357175
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Metaphyseal cupping, Flared metaphysis, Genu varum, Bowing of the legs	OMIM:619073
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
Temple Syndrome	Bifid uvula, Small hand, Clinodactyly, Feeding difficulties, Micrognathia, Joint hypermobility, S...	OMIM:616222
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft lip, Micrognathia, Submucous cleft hard palate, Joint hypermobility, Supernumera...	OMIM:619122
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Abnormal epiphysis mo...	ORPHA:85167
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Prominent crus of helix, Genu valgum, Hip contracture, Chronic constipation, Knee flexion contrac...	OMIM:619194
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Short femoral neck, Flared metaphysis, Short palm, Equinovarus deformity, Bowing of the legs, Apl...	ORPHA:2502
Lethal Congenital Contracture Syndrome 10	Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Femoral ...	OMIM:617022
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Atrophic scars, Inguinal hernia, Brachycephaly, Camptodactyly, Frontal bossing, Short nose	OMIM:615539
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Narrow mouth, Malar flattening, Death in infancy, Arachnodactyly, Cleft palate	ORPHA:93946
Hydrolethalus	Bifid uvula, Gingival cleft, Micromelia, Unilateral cleft lip, Retrognathia, Micrognathia, Submuc...	ORPHA:2189
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141179
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Narrow vertebral interpedicular distance, Metaphyseal dysplas...	OMIM:250250
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Lipomas of eyelids, Dolicho...	OMIM:167730
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Macrocephaly	ORPHA:261295
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Anteverted nares, Congenital diaphragmatic hernia, Mal...	ORPHA:1488
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com...	OMIM:618917
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Arthrogryposis-like hand anomaly, Depressed nasal bridge, Plagiocephaly, Umbil...	ORPHA:369891
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger, Prominent nasal bridge, Microcephaly, Macroce...	ORPHA:85279
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Tooth abscess, Rickets, Bowing of the legs	ORPHA:89937
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu...	OMIM:226980
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Pectus carinatum, Osteopenia, Broad thumb, Clinodactyly, Hyperplasia of the maxilla, Long hallux,...	OMIM:620194
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Anterior rib cupping, Flat acetabular roo...	OMIM:258480
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Limitation of joint mobility, Sandal gap...	ORPHA:178303
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Wormian bones, Shor...	OMIM:619638
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Umbilical hernia, Frontal bossing, Prominent nose, Inguinal hernia, Malar flat...	ORPHA:1292
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Bilateral single transverse palmar creases, Feeding difficultie...	OMIM:620450
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Absent distal phalanges, Bilat...	OMIM:619339
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Lobulated tongue, Hamartoma of tongu...	ORPHA:434179
Burn-Mckeown Syndrome	Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia, Short nose	ORPHA:1200
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Camptodactyly of finger, Brachycephaly, Dolichocephaly, Flexion contracture	ORPHA:272
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, Respiratory distress, 11 pairs of ribs, Bilateral single transverse pa...	ORPHA:50810
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Narrow mouth, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Tali...	OMIM:130070
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Limitation of joint mobility, Tracheo...	ORPHA:93260
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Microcephaly, Brachycephaly, Flat occiput	OMIM:618736
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Broad hallux, Duplication of phalanx of hallux, Postaxial ...	OMIM:617127
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Micrognathia, Narrow mouth, Submucous cl...	OMIM:164220
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Al-Gazali Syndrome	Gastrojejunal tube feeding in infancy, Osteopenia, Broad distal phalanx of finger, Micrognathia, ...	OMIM:609465
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac...	OMIM:201000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Anisospondyly, Micromelia, Thoracic hypoplasia, Pterygium, Micrognathia, Narrow mouth, Malar flat...	OMIM:224410
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Lig4 Syndrome	Wide nasal bridge, Failure to thrive, Prominent nose, Chronic sinusitis, Microcephaly, Brachyceph...	OMIM:606593
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Broad thumb, Intestinal malrotation, Micrognathia, Bilateral cleft palate, Bifid tongue, Clinodac...	ORPHA:2001
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Hypoplasia of the maxilla, Bra...	OMIM:101600
3-Methylglutaconic Aciduria, Type V	Hypospadias, Dilated cardiomyopathy, Congestive heart failure, Decreased testicular size, Cryptor...	OMIM:610198
Chromosome 2Q37 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Obesity, Anteverted nares, Malar flattening, Brachycepha...	OMIM:600430
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Frontal bossing, Turricephaly, Convex nasal ridge, Mandibular prognathia	ORPHA:1540
Peho-Like Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:617507
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal dental ename...	ORPHA:1798
Autosomal Recessive Amelia	Micrognathia, Acromelia of the lower limbs, Amelia, Orofacial cleft, Non-midline cleft of the upp...	ORPHA:1027
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft ...	ORPHA:1794
Contractural Arachnodactyly, Congenital	Micrognathia, Hip contracture, Arachnodactyly, Talipes equinovarus, Bowing of the long bones, Pat...	OMIM:121050
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Retrognathia, Micrognathia, Microcephaly, Brachycephaly	OMIM:618142
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Omphalocele, Short nose	ORPHA:1906
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Narrow mouth, Micrognathia, Radioulnar synostosis, Talipes equi...	OMIM:245600
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Thin ribs, Dentinogenesis i...	OMIM:616294
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous clef...	OMIM:192445
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge...	ORPHA:1716
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal joint morphology, Lumbar scoliosis, Metaphyseal dysplasia, Abnormal bone ossification, G...	ORPHA:99646
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Downturned corners of mouth, Single transverse palmar crease, 2-3 toe syndactyly, Thin upper lip ...	OMIM:613443
Osteoglosphonic Dysplasia	Rhizomelia, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Tooth agenesis, ...	ORPHA:2645
Infantile Systemic Hyalinosis	Osteopenia, Micromelia, Camptodactyly of finger, Osteomalacia, Abnormal dental morphology, Joint ...	ORPHA:2176
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Single transverse palmar crease, Absent front...	OMIM:253250
8Q12 Microduplication Syndrome	Wide nasal bridge, Brachycephaly	ORPHA:228399
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Depressed nasal bridge, Coronal craniosynostosis, Underdeveloped nasal alae, Anteverted nares, Ca...	ORPHA:228390
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, At...	OMIM:617695
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Hypoglossia With Situs Inversus	Microglossia, Malnutrition, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, Feeding...	OMIM:612776
Lamb-Shaffer Syndrome	Thick vermilion border, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Scoliosis, Feeding...	ORPHA:530983
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Edinburgh Malformation Syndrome	Choanal atresia, Failure to thrive, Anteverted nares, Micrognathia, Frontal bossing, Short nose	ORPHA:1895
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri...	ORPHA:2753
Lowry-Maclean Syndrome	Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Trigonocephaly, Micrognathia, Inguinal ...	ORPHA:2409
Say Syndrome	Short distal phalanx of finger, Micrognathia, Ulnar deviation of the 3rd finger, Cleft palate, Ta...	OMIM:181180
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, 11 pairs ...	OMIM:620073
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Narrow palm, Feeding difficulties in infancy, Short foot, Abnormal ulnar metaphysis m...	ORPHA:177910
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Decreased body weight, Microcephaly, ...	OMIM:617694
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Metaphyseal Chondrodysplasia, Jansen Type	Tooth malposition, Metaphyseal cupping, Osteopenia, Pathologic fracture, Micrognathia, Knee flexi...	OMIM:156400
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Failure to thrive, Retrognathia, M...	ORPHA:391372
Non-Distal Duplication 13Q	Trigonocephaly, Micrognathia, Hernia, Microcephaly, Short nose	ORPHA:1702
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Anteverted nares, Malar flattening, Turricephaly, Brachycephaly, Craniosynostosi...	OMIM:601853
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Long philtrum, Aplasia/Hypopla...	ORPHA:1358
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Talipes equinovaru...	OMIM:253220
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Narrow palate, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Retro...	OMIM:618186
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave...	ORPHA:98909
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal form of the vertebral b...	ORPHA:1834
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Shallow acetabular fossae, Toe syndactyly, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Myopathy, Centronuclear, 5	Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Hip contracture, High palate	OMIM:615959
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Microcephaly, Convex nasal ridge, Short nose	OMIM:200130
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso...	ORPHA:261519
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl...	ORPHA:2754
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Malar flattening, Brachycephaly, Macrocephaly	ORPHA:53271
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Microcephaly, Micrognathia, Short nose, Camptodactyly of finger	ORPHA:1495
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnorma...	ORPHA:1133
Frontonasal Dysplasia 3	Wide nasal bridge, Brachycephaly, Underdeveloped nasal alae	OMIM:613456
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Mandibular prog...	OMIM:123500
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Coffin-Lowry Syndrome	Open mouth, Pes planus, Everted lower lip vermilion, High palate, Rectal prolapse, Short metacarp...	OMIM:303600
Smith-Magenis Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Failure to thrive in infancy, O...	ORPHA:819
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finger joint hyperm...	OMIM:608739
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip	ORPHA:2776
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Cleft soft palate, Thin upper lip vermilion, Clinodactyly of the 5th finger, P...	OMIM:620183
Branchiogenic-Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Abnormal foot morphology, Subm...	OMIM:609166
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Arterial Tortuosity Syndrome	Esophagitis, Arachnodactyly, Hip dislocation, Gastroesophageal reflux, Avascular necrosis of the ...	ORPHA:3342
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Progressive microcephaly, Short nose	ORPHA:438178
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Periventricular Nodular Heterotopia 7	Microretrognathia, Failure to thrive, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome	OMIM:618234
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Congestive heart failure	ORPHA:206546
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Micrognathia, Increased susceptibili...	OMIM:312150
Intellectual Disability, Buenos-Aires Type	Pectus carinatum, Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morph...	ORPHA:3079
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Anteriorly placed anus, Carpal synostosis, Femoral bowing, Humeror...	OMIM:201750
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic...	ORPHA:560
Acheiropody	Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas...	OMIM:200500
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Micrognathia, Poor suck	OMIM:300580
Genitopatellar Syndrome	Hypoplastic ilia, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Feeding diff...	ORPHA:85201
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Broad thumb, Prominent fingertip pads, Prominent crus of helix, Open mouth...	OMIM:617804
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone minera...	ORPHA:157215
Microcephalic osteodysplastic primordial dwarfism, type III	Delayed cranial suture closure, Thick upper lip vermilion, Dislocation of the femoral head, Micro...	OMIM:210730
17Q23.1Q23.2 Microdeletion Syndrome	Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Patellar hypoplasia, Widely...	ORPHA:261279
Zimmermann-Laband Syndrome	Bifid uvula, Deep plantar creases, Overtubulated long bones, Pes cavus, Wide mouth, Micrognathia,...	ORPHA:3473
Mitochondrial Myopathy And Sideroblastic Anemia	Microcephaly, Micrognathia, Short nose	ORPHA:2598
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Frontal bossing, Short nose, Camptodactyly of finger	ORPHA:2547
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Brachycephaly, Malar flattening, Macrocephaly	OMIM:109120
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi...	OMIM:182212
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Short nose	OMIM:616854
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
8Q24.3 Microdeletion Syndrome	Branchial cyst, Talipes, Feeding difficulties in infancy, Short hallux, Pes planus, Cleft maxilla...	ORPHA:508488
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Diastema, Flexion contracture, Furrowe...	OMIM:300534
Meckel Syndrome, Type 8	Narrow chest, Cleft upper lip, Polydactyly, Talipes equinovarus, Abdominal distention, Cleft palate	OMIM:613885
Intellectual Developmental Disorder, Autosomal Recessive 39	Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia	OMIM:615541
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,...	OMIM:619322
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Becker Nevus Syndrome	Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern...	ORPHA:64755
Mucopolysaccharidosis-Plus Syndrome	Pectus carinatum, Respiratory distress, Acetabular dysplasia, Death in childhood, Flared iliac wi...	OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Malar flatte...	OMIM:300260
Choanal Atresia	Tracheomalacia, Respiratory distress, Subglottic stenosis, Chronic sinusitis, Polydactyly, Cranio...	ORPHA:137914
Congenital Disorder Of Glycosylation, Type Iia	Abnormal rib cage morphology, Osteopenia, Mandibular prognathia, Slender long bone, Long philtrum...	OMIM:212066
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Feeding difficulties in i...	ORPHA:177907
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mouth, Submucous cleft har...	OMIM:617412
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbanc...	ORPHA:275864
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Sandal gap, Prominent fingertip pads, Long philtrum, Respiratory...	OMIM:612863
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Sclerosteosis 1	Tooth malposition, Abnormal pelvic girdle bone morphology, Broad clavicles, Deviation of finger, ...	OMIM:269500
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141184
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Abnormal form of the vertebral bodies, Unilat...	ORPHA:1787
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Clinodactyly, Ankyloglossia, Overlapping toe, Bilateral single transverse palmar crea...	ORPHA:488642
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Apnea, Narrow mouth, Micrognath...	OMIM:602483
Enlarged Parietal Foramina	Broad thumb, Cleft lip, Vomiting, Short clavicles, Craniosynostosis, Cleft palate	ORPHA:60015
Shprintzen-Goldberg Syndrome	Elbow dislocation, Genu valgum, Micrognathia, Arachnodactyly, Bowing of the long bones, Pes planu...	ORPHA:2462
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Malar flattening, Brachycephaly, Abnormal shape of the occiput, Frontal bossing	OMIM:218350
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Thin calvarium, Micrognathia, Frontal bossing, Short nose	ORPHA:1129
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Tracheal stenosis, Micrognathia, Narrow mouth, Missing r...	ORPHA:3301
Saul-Wilson Syndrome	Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Wide anterior ...	OMIM:618150
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Mi...	ORPHA:800
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:618218
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Secondary microcephaly, Trigonocephaly, Micrognathia, Malar flattening...	ORPHA:79113
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:615546
Aorto-Ventricular Tunnel	Heart murmur, Congestive heart failure	ORPHA:3400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Vomiting, Diarrhea, Respiratory distress, Pes planus, Feeding difficulties	OMIM:250940
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Plagiocephaly, Enlarged naris, Elbow flexion contracture, Anteverted nares, Pr...	ORPHA:371364
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Ankyloglossia, Death in infancy, Decreased skull...	OMIM:602361
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe...	OMIM:300373
Craniofaciofrontodigital Syndrome	Macroglossia, Pectus carinatum, Osteopenia, Gastroesophageal reflux, Gastrointestinal hemorrhage,...	ORPHA:363705
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, High...	OMIM:608670
Coronary Arterial Fistula	Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati...	ORPHA:2041
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti...	ORPHA:563
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Anteverted nares, Brachycephaly, Choanal stenosis, Craniosynostosis, Maxillozygom...	ORPHA:1790
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Misalignment of incisors, 11 pairs of ribs, Bicoronal...	OMIM:619184
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Feeding difficulties, Absent thumb, Submucous cleft hard palate	OMIM:619239
Inverted Duplicated Chromosome 15 Syndrome	Hernia, Microcephaly, Brachycephaly, Broad nasal tip	ORPHA:3306
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln...	ORPHA:246
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Brachycephaly, D...	ORPHA:1791
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Large for gestational age, Broad nasal tip, Cranial asymmetry, Macrocephaly	ORPHA:137634
Desanto-Shinawi Syndrome	Depressed nasal bridge, Bulbous nose, Brachycephaly	OMIM:616708
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi...	OMIM:151050
Nasopalpebral Lipoma-Coloboma Syndrome	Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Depressed nasal tip, Mic...	ORPHA:2399
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Microce...	ORPHA:2083
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Obesity, Mandibular prognathia, Macrocephaly	ORPHA:397973
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Micrognathia, Talipes equinovarus, ...	OMIM:616145
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Ab...	ORPHA:783
Stickler Syndrome	Open bite, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Feeding difficulties in ...	ORPHA:828
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly	OMIM:614416
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Delayed cranial suture closure, Flexion contracture, Micrognathia, Narrow mouth,...	OMIM:608612
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino...	ORPHA:496689
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Disinhibition, Aggressive behavior, Gait disturbance, Restlessness, Motor...	OMIM:600795
3P25.3 Microdeletion Syndrome	High, narrow palate, Pyloric stenosis, Mandibular prognathia, Broad thumb, Broad hallux, Downturn...	ORPHA:435638
Acrootoocular Syndrome	Micrognathia, Anodontia, Small thenar eminence, Short foot, Short metacarpal, High, narrow palate...	ORPHA:2980
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Brachycephaly, Frontal bossing	OMIM:616789
Native American Myopathy	Progressive congenital scoliosis, Bifid uvula, Gastroesophageal reflux, Congenital contracture, D...	ORPHA:168572
Phosphoribosylaminoimidazole Carboxylase Deficiency	Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Anteverted nares, Brachycepha...	OMIM:619859
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia...	OMIM:265000
Kleefstra Syndrome Due To A Point Mutation	Plagiocephaly, Natal tooth, Failure to thrive, Umbilical hernia, Large for gestational age, Ingui...	ORPHA:261652
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno...	OMIM:615349
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations, Feeding difficulties in infancy	ORPHA:238329
Amish Lethal Microcephaly	Limitation of joint mobility, Micrognathia, Cleft soft palate, Death in infancy, Decreased skull ...	ORPHA:99742
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Shoulder dislocation, Micrognathia, Thoracic scoliosis, Cervical C2...	OMIM:618000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Micrognathia, Death in childhood, Camptodactyly, Flexion contracture, Rocker bottom...	OMIM:604273
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Wide mouth, Micrognathia, Patellar aplasi...	ORPHA:2058
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Failure to thrive, Anteverted nares, Inguinal hernia, Malar flattening, Microcepha...	OMIM:219200
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of...	OMIM:249420
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Dental malocclusion, Abnormal shoulder morphology, Narrow...	ORPHA:2115
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Joint stiffness, Femoral bowing, Bowin...	ORPHA:1860
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Anteverted nares, Microretrognathia, Biparietal narrowing	ORPHA:228396
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i...	OMIM:250220
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Micrognathia, Short nose	ORPHA:261120
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Cleft soft palate, Smooth philtrum, Deep palmar crease, Adducted thumb, Short philtrum	ORPHA:293725
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Clinodactyly, Overlapping toe, Overlapping fingers, Everted lower lip vermilio...	ORPHA:464738
Rothmund-Thomson Syndrome Type 2	Carious teeth, Diarrhea, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper limbs,...	ORPHA:221016
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Congenital Myopathy 8	Congestive heart failure	OMIM:618654
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, Drum...	OMIM:612938
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Anteriorly placed anus, Respiratory distress, Overlappin...	OMIM:123790
Humeroradial Synostosis	Wide nasal bridge, Brachycephaly	OMIM:236400
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Trigonocephaly, Anteverted nares, Inguin...	ORPHA:363659
Au-Kline Syndrome	Overlapping toe, Feeding difficulties, Open mouth, Thoracolumbar scoliosis, High palate, Gastroes...	OMIM:616580
Occipital Horn Syndrome	Genu valgum, Pes planus, High palate, Pectus carinatum, Broad clavicles, Limited elbow extension,...	OMIM:304150
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Wide anterior fontanel, Abnormal clavicle morphology...	ORPHA:85199
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Aplasia/Hy...	ORPHA:235
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Mandibular prognathia, Frontal bossing	OMIM:615828
Limb-Mammary Syndrome	Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,...	OMIM:603543
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Chronic constipation, Feeding difficulties in infancy, Pes planus, High palate, Eru...	ORPHA:476126
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Everted lower lip vermilion, Death in infancy, Short finger	OMIM:242500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Joint contracture of the hand, Apnea, Micrognathia, Death in childhood, Single transverse palmar ...	OMIM:214110
Codas Syndrome	Hypoplasia of the odontoid process, Genu valgum, Lumbar scoliosis, Metaphyseal dysplasia, Anal at...	OMIM:600373
Craniolenticulosutural Dysplasia	Carious teeth, Pes planus, High palate, Osteopenia, Gastroesophageal reflux, Thin upper lip vermi...	OMIM:607812
Monosomy 18P	Wide nasal bridge, Carious teeth, Micrognathia, Microcephaly, Brachycephaly	ORPHA:1598
Nail-Patella Syndrome	Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist...	ORPHA:2614
Developmental And Epileptic Encephalopathy 80	Short distal phalanx of finger, Long philtrum, Micrognathia, Tented upper lip vermilion, Protrudi...	OMIM:618580
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Prominent nose, Scaphocephaly, Decreased body weight, Prominence of the premax...	OMIM:614886
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the dentition, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Stevenson-Carey Syndrome	Joint contracture of the hand, Underdeveloped nasal alae, Anteverted nares, Prominent nasal tip, ...	OMIM:611961
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Bulbous nose, Hypoplasia of the maxilla, Progressive microcephaly	OMIM:618737
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Basel-Vanagaite-Smirin-Yosef Syndrome	Pectus carinatum, Gastroesophageal reflux, Retrognathia, Furrowed tongue, Tented upper lip vermil...	OMIM:616449
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Microglossia, Narrow chest, Postaxial ...	OMIM:263520
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Pyloric stenosis, Conical tooth, Short thumb, Supernumerary vertebrae...	OMIM:263750
Thanatophoric Dysplasia, Glasgow Variant	Micromelia, Neonatal death	OMIM:273680
Seckel Syndrome 2	Micrognathia, Clinodactyly of the 5th finger, Microglossia, Microdontia	OMIM:606744
Lig4 Syndrome	Wide nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Convex nasal ridge, Biparietal narr...	ORPHA:99812
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Dental crowding, Delayed eruption of teeth, Microgna...	OMIM:300990
Cerebrocostomandibular Syndrome	Posterior rib gap, Tracheomalacia, Feeding difficulties, Micrognathia, Bell-shaped thorax, Death ...	ORPHA:1393
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Straight clavicles...	OMIM:113300
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, ...	OMIM:253290
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Motor stereotypy	OMIM:615282
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Abnormal form of the vertebral ...	ORPHA:2769
Myopathy, Myofibrillar, 7	Tongue atrophy, Shoulder flexion contracture, Elbow flexion contracture, Lumbar hyperlordosis, Pe...	OMIM:617114
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Congestive heart failure	OMIM:314400
Intellectual Developmental Disorder, Autosomal Dominant 7	Inappropriate laughter, Stereotypical hand wringing, Gait disturbance, Hyperactivity, Ataxia, Thi...	OMIM:614104
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Umbili...	ORPHA:2095
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Feeding ...	OMIM:174300
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Carious teeth, Femoral bowing, Osteoporosis, Scoliosis, Recurrent frac...	OMIM:126550
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Chromosome 3Q13.31 Deletion Syndrome	Dolichocephaly, Brachycephaly, Plagiocephaly	OMIM:615433
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly	ORPHA:2662
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Absent Achilles reflex, Paradoxical respi...	OMIM:620011
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Azoospermia, Telangiectasia, Hypogonadotropic hypogonad...	OMIM:235200
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Long philtrum, Irregular acetabular roof, Open bite, Broad ribs, ...	OMIM:619698
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Foot polydactyly, High palate, Tarsal synostosis, Acc...	ORPHA:2750
Doors Syndrome	Equinovarus deformity, Short lingual frenulum, Open mouth, Lumbar scoliosis, Aplasia/Hypoplasia o...	ORPHA:79500
Laurence-Moon Syndrome	Brachycephaly, Obesity	ORPHA:2377
Hypertelorism, Microtia, Facial Clefting Syndrome	Abnormal vertebral morphology, Short 5th finger, Tessier cleft, Cleft upper lip, Micrognathia, Na...	OMIM:239800
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Death in infancy, Neonatal death, Hypoplasia of the radius, Rectal atr...	OMIM:613390
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Respiratory distress, Broad ribs, Short ribs, Abnormal rib morpholog...	ORPHA:2519
Marden-Walker Syndrome	High, narrow palate, Wide anterior fontanel, Joint contracture of the hand, Congenital contractur...	OMIM:248700
Robinow-Sorauf Syndrome	Plagiocephaly, Narrow nose, Malar flattening, Long nose, Craniosynostosis, Pansynostosis	OMIM:180750
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart fai...	ORPHA:2414
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Xerostomia, Finger syndactyly, Oral leukoplakia,...	ORPHA:2907
Nail-Patella Syndrome	Patellar aplasia, Talipes equinovarus, Disproportionate prominence of the femoral medial condyle,...	OMIM:161200
Buratti-Harel Syndrome	Bifid uvula, Broad thumb, Gastroesophageal reflux, Velopharyngeal insufficiency, Broad hallux, Su...	OMIM:619314
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Partial duplication of the distal phalanx ...	OMIM:101400
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Calvarial hyperostosis, Joint stiffness...	OMIM:607014
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Anteverted nares, Hip contracture, Microcephaly, Brachycephaly, Achilles tendo...	OMIM:301041
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac...	ORPHA:3329
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypopl...	ORPHA:3027
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Microretrognathia, Short nose	ORPHA:1389
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Respiratory distress, Aglossia, Micrognathia, Narrow mouth, Mandibu...	OMIM:202650
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Deep plantar creases, Arthrogryposis multiplex congen...	ORPHA:96061
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Feeding difficulties	ORPHA:261304
Fixed Subaortic Stenosis	Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit...	ORPHA:3092
Desmosterolosis	Bifid uvula, Micromelia, Retrognathia, Intestinal malrotation, Feeding difficulties, Micrognathia...	ORPHA:35107
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Natal tooth, Anteverted nare...	OMIM:145420
Restrictive Dermopathy 1	Rocker bottom foot, Natal tooth, Overtubulated long bones, Temporomandibular joint ankylosis, Inc...	OMIM:275210
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Nasogastric tube feeding, Respiratory distress, Knee contracture, ...	OMIM:620278
Mogs-Cdg	Retrognathia, Nasogastric tube feeding, Respiratory distress, Overlapping fingers, Apnea, Hypoven...	ORPHA:79330
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Mandibular prognathia, Malar flattening	ORPHA:94066
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami	OMIM:141300
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Microcephaly, Biparietal narrowing, Short nose	ORPHA:1920
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Nasogastric tube feeding, Resp...	ORPHA:329178
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Ope...	ORPHA:352665
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Large fleshy ears, Gait ataxia, Impaired tactile sensation, Ataxia, Overfolded heli...	OMIM:619092
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro...	OMIM:254210
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Osteomalacia, Open bite, Genu valgum, Open mouth, Micrognathia, Fee...	ORPHA:534
C Syndrome	Ulnar deviation of finger, Postaxial foot polydactyly, Toe syndactyly, Clinodactyly, Radial devia...	OMIM:211750
Weiss-Kruszka Syndrome	Prominent nasal tip, Short nose	ORPHA:502430
Galloway-Mowat Syndrome 7	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Single transverse pa...	OMIM:618348
Smith-Magenis Syndrome	Wide nasal bridge, Malar flattening, Increased body weight, Brachycephaly, Mandibular prognathia	OMIM:182290
Warburg Micro Syndrome 3	Secondary microcephaly, Micrognathia, Microcephaly, Brachycephaly, Flexion contracture, Short nose	OMIM:614222
Meier-Gorlin Syndrome 4	Genu recurvatum, Hypoplasia of the maxilla, Slender long bone, Thick lower lip vermilion, Microgn...	OMIM:613804
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Cranioectodermal Dysplasia 1	Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa...	OMIM:218330
Cronkhite-Canada Syndrome	Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Malabsorption, Tapered finger, A...	ORPHA:2930
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Charcot-Marie-Tooth Disease, Type 4C	Tongue atrophy, Tongue fasciculations, Pes cavus, Talipes equinovarus, Scoliosis, Hammertoe	OMIM:601596
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Feeding difficulties, Microg...	OMIM:180849
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity, Anteverted nares, Inguinal hernia, Microcephaly, Brachycephaly, Femor...	ORPHA:96147
Sweeney-Cox Syndrome	Short distal phalanx of finger, Narrow chest, Gastroesophageal reflux, Velopharyngeal insufficien...	OMIM:617746
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly, Macrocephaly	OMIM:607313
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium, Absent thumb, Finger syndactyly, Toe syndactyly, Micro...	ORPHA:1234
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Popliteal pterygium, Finger syndactyly, Fibrous syngnathia, Lip pit, Joint stiffn...	ORPHA:1300
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Carey-Fineman-Ziter Syndrome 1	Microglossia, Gastroesophageal reflux, Retrognathia, Flexion contracture, Pectoralis hypoplasia, ...	OMIM:254940
Atrial Septal Defect, Ostium Secundum Type	Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun...	ORPHA:99103
Kleefstra Syndrome 2	Microcephaly, Plagiocephaly	OMIM:617768
Miller-Dieker Syndrome	Anteverted nares, Omphalocele, Short nose	ORPHA:531
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Mandibular prognathia, Plagiocephaly, Microretrognathia, Hypoplasia of the zyg...	OMIM:613603
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c...	OMIM:210710
Trisomy 9P	Impacted tooth, Microcephaly, Brachycephaly, Abnormal nasal morphology	ORPHA:236
Christianson Syndrome	Inappropriate laughter, Death in early adulthood, Gait ataxia, Dysphagia, Truncal ataxia, Motor s...	ORPHA:85278
Osteogenesis Imperfecta, Type Xx	Plagiocephaly, Retrognathia, Bulbous nose, Microcephaly, Brachycephaly, Mandibular prognathia	OMIM:618644
Marden-Walker Syndrome	Bifid uvula, Pectus carinatum, Arthrogryposis multiplex congenita, Abnormal form of the vertebral...	ORPHA:2461
Foxg1 Syndrome	Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Motor stereotypy, Pa...	ORPHA:561854
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Craniosynostosis, Short nose, Macrocephaly	OMIM:614732
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Xerostomia, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Narrow fo...	ORPHA:220393
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Abdominal distention, Projectile vomiting, Pes valgu...	OMIM:620045
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Autosomal Dominant Robinow Syndrome	Elbow dislocation, Finger syndactyly, Open bite, Micrognathia, Anodontia, Short palm, Hip disloca...	ORPHA:3107
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Radiou...	OMIM:154400
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr...	OMIM:115197
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal reproductive system morphology, Congestive heart failure	ORPHA:70472
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy	OMIM:618906
Band Heterotopia	Plagiocephaly, Macrocephaly	OMIM:600348
Atrial Septal Defect, Ostium Primum Type	Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ...	ORPHA:99106
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Microcephaly, Brachycephaly, Plagiocephaly	OMIM:618862
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Cachexia, Frontal bossing, Short nose	ORPHA:884
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Cardiac arrest, Congestive heart failure	ORPHA:49827
Kleefstra Syndrome 1	Natal tooth, Obesity, Anteverted nares, Persistence of primary teeth, Malar flattening, Microceph...	OMIM:610253
Familial Visceral Myopathy	Narrow chest, Camptodactyly of finger, Joint stiffness, Micrognathia, Arachnodactyly, Aganglionic...	ORPHA:2604
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Hemimegalencephaly	Cranial asymmetry, Macrocephaly	ORPHA:99802
Congenital Gerbode Defect	Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi...	ORPHA:99095
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Warburg Micro Syndrome 2	Secondary microcephaly, Prominent nasal bridge, Microcephaly, Brachycephaly, Flexion contracture,...	OMIM:614225
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Congenital diaphragmatic hernia, Microcephaly, Biparietal narrowi...	ORPHA:1915
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Clinodactyl...	ORPHA:808
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Rib exostoses, Small hand, Natal tooth, Trache...	ORPHA:2108
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi...	ORPHA:666
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Widely spa...	ORPHA:1071
Cutis Laxa, Autosomal Recessive, Type Iiia	Failure to thrive, Umbilical hernia, Inguinal hernia, Narrow nasal ridge, Brachycephaly, Frontal ...	OMIM:219150
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Prominent nasal bridge, Micrognathia...	OMIM:309520
Tetraploidy	Radial club hand, Short philtrum, Micrognathia, Cleft palate	ORPHA:3305
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Malar prominence, Micrognathia, Joint hypermobil...	ORPHA:2824
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity, Plagiocephaly	ORPHA:521390
Pallister-Hall Syndrome	Postaxial foot polydactyly, Toe syndactyly, Natal tooth, Distal shortening of limbs, Neonatal dea...	OMIM:146510
Robinow Syndrome	Tooth malposition, Ankyloglossia, Marked delay in eruption of permanent teeth, Micrognathia, Meso...	ORPHA:97360
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Feeding difficulties in infancy, Apneic episodes precipitated by illness, f...	OMIM:605809
Hamamy Syndrome	Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Osteopenia, Neck pterygia, Th...	OMIM:611174
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Brachyturricephaly, Hyperplasia of the maxilla, Retrognathia, Prom...	OMIM:300280
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Postaxial hand polydactyly, ...	OMIM:614120
Angelman Syndrome	Hypoplasia of the maxilla, Secondary microcephaly, Obesity, Brachycephaly, Mandibular prognathia,...	OMIM:105830
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Protru...	OMIM:230600
Rothmund-Thomson Syndrome	Carious teeth, Diarrhea, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia of the...	ORPHA:2909
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ankyloglossia, Narrow mouth, Arachnodactyly, Bowing of the long bones, Pes planus...	ORPHA:261330
Alfadhel Syndrome	Retrognathia, Joint hypermobility, Talipes equinovarus, Smooth philtrum, Thin vermilion border, S...	OMIM:620655
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum, Short nose	OMIM:302950
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Distal Duplication 17Q	Pectus carinatum, Rhizomelia, Overlapping toe, Genu valgum, Pes cavus, Wide mouth, Micrognathia, ...	ORPHA:3379
Bruck Syndrome 2	Platyspondyly, Pectus carinatum, Osteopenia, Elbow flexion contracture, Pterygium, Femoral bowing...	OMIM:609220
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure	ORPHA:85446
Diamond-Blackfan Anemia 6	Bifid uvula, Short thumb, Cleft upper lip, Retrognathia, Tracheomalacia, Micrognathia, Triphalang...	OMIM:612561
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Nasogastric tube feeding in infancy, Macroglossia, High palate, Poor suck	ORPHA:254864
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Death in infancy, Vertebral segmentation defect, Kyphoscoliosis, Rib fusion, Hem...	OMIM:277300
Esophageal Atresia	Abnormal vertebral morphology, Barrett esophagus, Cleft lip, Gastroesophageal reflux, Clinodactyl...	ORPHA:1199
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Osteopenia, Femoral bowing, Biconcave flattened vertebrae, Increased s...	OMIM:166200
Diamond-Blackfan Anemia 21	Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, Narrow mouth, Micrognathia, Chroni...	OMIM:620072
2Q23.1 Microdeletion Syndrome	Microcephaly, Brachycephaly, Malar flattening	ORPHA:228402
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Anteverted nares, Prominent nasal bridge, Frontal bossing	OMIM:608688
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Malar flattening, Inguinal hernia, Pr...	ORPHA:2412
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Frontal bossing, Short nose	OMIM:617183
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Mgat2-Cdg	Osteopenia, Gastroesophageal reflux, Dental crowding, Respiratory distress, Gastroparesis, Open m...	ORPHA:79329
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Secondary microcephaly, Primary microcephaly, Small for gestational age, Short nose	ORPHA:289266
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge	OMIM:156510
Cardiofaciocutaneous Syndrome 1	Open bite, Micrognathia, Open mouth, Feeding difficulties in infancy, High palate, Multiple plant...	OMIM:115150
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Bilateral cryptorchidism,...	ORPHA:2326
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil...	OMIM:616894
Baraitser-Winter Syndrome 1	Wide nasal bridge, Failure to thrive, Retrognathia, Trigonocephaly, Anteverted nares, Microcephal...	OMIM:243310
Hypoglossia-Hypodactylia	Microglossia, Retrognathia, Adactyly, Aglossia, Micrognathia, Narrow mouth, Split hand	OMIM:103300
Orofaciodigital Syndrome X	Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b...	OMIM:165590
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Failure to thrive, Progressive microcephaly, Small for gestational age...	OMIM:614261
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Osteopenia, Dental crowding, Delayed cranial suture closure, Elbo...	OMIM:248370
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Chronic constipation, Pes planus, High, narrow pala...	OMIM:619950
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Anteverted nares, Dorsocervical fat pad, Micrognathia, Decreased body weight, Microcephaly, Prima...	ORPHA:391408
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Thick nasal alae, Micrognathia, Frontal bossing, Short nose	ORPHA:163961
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Hand muscle weakness, Respiratory distress, Hypoventilation, Triangular mo...	ORPHA:98915
Rothmund-Thomson Syndrome Type 1	Carious teeth, Diarrhea, Patellar aplasia, Genu varum, Short metacarpal, Osteopenia, Metaphyseal ...	ORPHA:221008
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Hy...	ORPHA:391474
Congenital Disorder Of Glycosylation, Type Iq	Depressed nasal bridge, Brachycephaly, Failure to thrive	OMIM:612379
Pontocerebellar Hypoplasia, Type 2E	Failure to thrive, Secondary microcephaly, Micrognathia, Microcephaly, Progressive microcephaly, ...	OMIM:615851
Ohdo Syndrome, X-Linked	Narrow chest, Clinodactyly, Short thumb, Long philtrum, Widely spaced teeth, Overlapping toe, Mic...	OMIM:300895
Richieri-Costa/Guion-Almeida Syndrome	Microcephaly, Brachycephaly, Mandibular prognathia, Malar flattening	OMIM:268850
Desmosterolosis	Joint contracture of the hand, Hypoplastic nasal bridge, Failure to thrive, Frontal bossing, Ante...	OMIM:602398
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Mandibular prognathia, Retrognathia, Secondary microcephaly, Bulbous nose,...	OMIM:156200
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Recurrent upper respira...	OMIM:612513
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Hypoplasia of the ...	OMIM:614188
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Slender build, Malar flattening, Brachycephal...	ORPHA:364028
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Narrow chest, Hepatic failure, Abdominal distention, Micrognathia, Ma...	OMIM:235255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Macroglossia, Osteopenia, Gastroesophageal reflux, Downturned corners of mouth, Furr...	ORPHA:453499
Cleft Velum	Hypoplasia of the maxilla, Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dys...	ORPHA:99772
Kagami-Ogata Syndrome	Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Bell-shaped thor...	OMIM:608149
Hallermann-Streiff Syndrome	Natal tooth, Dental malocclusion, Underdeveloped nasal alae, Narrow nose, Thin calvarium, Promine...	OMIM:234100
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Plagiocephaly, Bulbous nose, Prominent nasal bridge, Micrognathia, Brachycepha...	ORPHA:247262
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Arachnodactyly, Pes planus, Hi...	ORPHA:536532
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Retrognathia, Obesity, Micrognathia, Macrocephaly, Hypoplasia of teeth, Fronta...	OMIM:620250
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Delayed eruption of teeth, Trigonocephaly, Micrognathia, Micr...	OMIM:619148
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver function, Death in...	OMIM:608104
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Frontal bossing, Postnatal macrocephaly, Obesity, Large for gestational a...	OMIM:605309
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Orofaciodigital Syndrome Ix	Abnormality of the dentition, Toe syndactyly, Short tibia, Median cleft upper lip, Hand polydacty...	OMIM:258865
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Plagiocephaly, Frontal bossing	OMIM:618330
Viss Syndrome	Recurrent joint dislocation, Genu valgum, Cleft soft palate, Micrognathia, Chronic constipation, ...	OMIM:619472
Houge-Janssens Syndrome 3	Broad nasal tip, Plagiocephaly, Umbilical hernia, Inguinal hernia, Microcephaly, Macrocephaly, Fr...	OMIM:618354
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Malabsorption, Anorexia...	OMIM:175500
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Cirrhotic Cardiomyopathy	Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef...	ORPHA:57777
Split-Hand/Foot Malformation 3	Camptodactyly, Hypoplasia of the maxilla, Microretrognathia	OMIM:246560
48,Xxxy Syndrome	Depressed nasal ridge, Carious teeth, Delayed eruption of teeth, Abnormal dental enamel morpholog...	ORPHA:96263
Adnp Syndrome	Broad thumb, Gastroesophageal reflux, Sandal gap, Broad hallux, Thick lower lip vermilion, Respir...	ORPHA:404448
Ritscher-Schinzel Syndrome 1	Micrognathia, Depressed nasal bridge, Brachycephaly, Prominent occiput	OMIM:220210
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Pes planus, Dy...	OMIM:616268
Warburg Micro Syndrome 4	Secondary microcephaly, Anteverted nares, Prominent nasal bridge, Brachycephaly, Flexion contracture	OMIM:615663
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Aplasia of the ulna, Neonatal death	OMIM:276822
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	ORPHA:1652
Nestor-Guillermo Progeria Syndrome	Thin ribs, Microretrognathia, Dental malocclusion, Dental crowding, Pathologic fracture, Progress...	OMIM:614008
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Large for gestational age, Anteverted nares,...	OMIM:615398
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Motor stereotypy	OMIM:617393
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Microcephaly, Macrocep...	OMIM:617751
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,...	OMIM:601214
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Failure to thrive, Underdeveloped nasal alae, Retrognathia, Ant...	OMIM:613026
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Micrognathi...	ORPHA:314585
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Plagiocephaly, Dental malocclusion, Scaphocephaly, Frontal bossing	OMIM:619149
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Micrognathia, Protuberant abdomen, High palate, Rocker bottom ...	OMIM:616038
Frontofacionasal Dysplasia	Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Malar flat...	OMIM:229400
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Brachycephaly, Bicoronal synostosis, Short nose	ORPHA:93258
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Microcephaly, Delayed eruption of permanent teeth, Short nose	OMIM:619356
Nephrotic Syndrome, Type 11	Cleft lip, Clinodactyly, Micrognathia, Partial duplication of thumb phalanx, Arachnodactyly, Smoo...	OMIM:616730
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Broad ribs, Osteomyelitis, Joint swelling, Flaring...	OMIM:612852
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Malar flattening, Brachycephaly, Macrocephaly, Dolichoc...	ORPHA:357001
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible...	ORPHA:364577
19P13.12 Microdeletion Syndrome	Obesity, Narrow nasal bridge, Anteverted nares, Microcephaly, Brachycephaly, Craniosynostosis, Ar...	ORPHA:254346
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy	OMIM:254120
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Single transverse palmar cre...	ORPHA:2437
Farber Disease	Hepatic failure, Short toe, Abnormal sternum morphology, Short finger, Respiratory distress, Abno...	ORPHA:333
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Plagiocephaly, Failure to thrive, Micrognathia, Microcephaly, Distal arth...	OMIM:619833
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Retrognathia, Abdominal distention, Micrognathia, ...	OMIM:619879
Neu-Laxova Syndrome	Bifid uvula, Osteopenia, Rickets, Micromelia, Retrognathia, Osteomalacia, Pterygium, Arthrogrypos...	ORPHA:2671
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Long philtrum, Submucous cleft hard palate, Contracture of the proxim...	ORPHA:457279
Arthrogryposis, Distal, Type 2A	Wide nasal bridge, Joint contracture of the hand, Shoulder flexion contracture, Failure to thrive...	OMIM:193700
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Brachycephaly, Abnorma...	ORPHA:404440
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Fraser Syndrome 1	Tessier cleft, Difficulty in tongue movements, Dental malocclusion, Dental crowding, Cleft upper ...	OMIM:219000
Smith-Kingsmore Syndrome	Depressed nasal bridge, Umbilical hernia, Large for gestational age, Macrocephaly, Frontal bossin...	OMIM:616638
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Ulnar deviation of the hand or of fingers of the hand, Feeding difficulties,...	OMIM:214100
Acrofrontofacionasal Dysostosis 2	Microcephaly, Brachycephaly, Wide nose	OMIM:239710
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Twelfth rib hypoplasia, Micrognathia, Bell-shaped thorax, Tachypnea, Long clavicles, Cone-shaped ...	ORPHA:397715
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Malar flattening, Concave nasal ridg...	OMIM:613038
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Osteopenia, Short toe, Recurrent mandibular subluxations, Gingival overgrowth,...	OMIM:225410
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of th...	OMIM:609638
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Protruding tongue, Absent frontal sinuses, Talipes equinovarus, Widely-spaced maxil...	OMIM:301040
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Joint contracture of the hand, Plagiocephaly, Failure to thrive, Prominen...	ORPHA:363528
Lopes-Maciel-Rodan Syndrome	Bruxism, Dysphagia, Unsteady gait, Motor stereotypy, Agitation	OMIM:617435
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Long philtrum, Micrognathia, Butterfly vertebrae, Narr...	ORPHA:263508
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Boomerang Dysplasia	Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body	OMIM:112310
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Contractures of the large joints, Protruding tongue, Abnormal thumb morphology, Kyphoscoliosis, S...	ORPHA:324410
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho...	ORPHA:330001
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Cryptorchidism, Arrhythmia, Hypospadias	ORPHA:1194
Dermotrichic Syndrome	Depressed nasal bridge, Frontal bossing, Short nose	ORPHA:99688
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Cerebrofaciothoracic Dysplasia	Hernia, Brachycephaly, Macrocephaly, Short nose, Wide nose	ORPHA:1394
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Microcephaly, Plagiocephaly, Joint contracture	OMIM:617481
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Developmental And Epileptic Encephalopathy 65	Microcephaly, Plagiocephaly	OMIM:618008
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Long philtrum, Tracheal stenosis, Subglottic stenosis, Limited elbow moveme...	OMIM:617809
Sialuria	Thoracic hypoplasia, Long philtrum, Long hallux, 2-3 toe syndactyly, Thin upper lip vermilion, Sm...	OMIM:269921
Encephalopathy Due To Sulfite Oxidase Deficiency	Microcephaly, Short nose	ORPHA:833
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Frontal bossing, Short nose, Macrocephaly	OMIM:300863
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Anterior plagiocephaly, Microcephaly, Left uni...	OMIM:614749
Shukla-Vernon Syndrome	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy...	OMIM:301029
Faciocardiomelic Syndrome	Osteopenia, Narrow chest, Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of t...	OMIM:612731
Adenylosuccinase Deficiency	Microcephaly, Anteverted nares, Brachycephaly, Short nose	OMIM:103050
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Median cleft palate, Aplasia/hypoplasia involving bon...	ORPHA:40366
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Donnai-Barrow Syndrome	Depressed nasal bridge, Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Macroceph...	ORPHA:2143
Verheij Syndrome	Wide nasal bridge, Broad nasal tip, Retrognathia, Anteverted nares, Microcephaly, Small for gesta...	OMIM:615583
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Prominent nasal br...	OMIM:216550
Combined Oxidative Phosphorylation Deficiency 30	Gastroesophageal reflux, Decreased liver function, Respiratory distress, Death in infancy, Feedin...	OMIM:616974
Baller-Gerold Syndrome	Brachyturricephaly, Failure to thrive in infancy, Narrow nasal bridge, Prominent nasal bridge, Mi...	ORPHA:1225
9P13 Microdeletion Syndrome	Wide nasal bridge, Microretrognathia, Umbilical hernia, Anteverted nares, Brachycephaly	ORPHA:324313
Danon Disease	Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q...	OMIM:300257
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Secondary microcephaly, Bulbous nose, Anteverted nares, Malar flattening, Shor...	OMIM:616420
Weill-Marchesani Syndrome 2	Tooth malposition, Broad phalanges of the hand, High palate, Short metacarpal, Hypoplasia of the ...	OMIM:608328
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Umbilical hernia, Malar flattening, Brachycephaly, Macrocephaly, Frontal ...	OMIM:612582
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Obesity, Anteverted nares, Malar flattening, Mandibular prognathia, Short...	OMIM:614613
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Congestive heart failure	OMIM:176670
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Respiratory distress, Micrognathia, Cleft palate, Feeding difficulties	OMIM:606164
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Feeding diff...	ORPHA:818
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Acromelic Frontonasal Dysplasia	Bifid nasal tip, Broad nasal tip, Thick nasal alae, Midline central nervous system lipomas, Brach...	ORPHA:1827
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Microcephaly, Macrocep...	ORPHA:500159
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Macrocephaly, Mandibular...	OMIM:614753
Kleefstra Syndrome	Delayed eruption of teeth, Obesity, Anteverted nares, Malar flattening, Hernia, Microcephaly, Bra...	ORPHA:261494
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Delayed eruption of teeth, Abnormal...	ORPHA:96264
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal pelvic girdle bone morphology, Narrow chest, Micromelia, Increased skull ossification, B...	ORPHA:1422
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Short nose	ORPHA:90653
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure	ORPHA:3077
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Meier-Gorlin Syndrome 2	Gastroesophageal reflux, Slender long bone, Tracheomalacia, Micrognathia, Narrow mouth, Patellar ...	OMIM:613800
Acrodysostosis 1 With Or Without Hormone Resistance	Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Dental malocclusion, Delayed ...	OMIM:101800
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Short humerus, Lateral femoral b...	OMIM:239000
Familial Atrial Myxoma	Tricuspid regurgitation, Heart murmur, Congestive heart failure	ORPHA:615
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Fibular bowing, Talipes equinovarus, Bilateral coxa valga, High palate, Short fo...	OMIM:618268
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft palate, Mirror ...	OMIM:119800
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Motor stereotypy	OMIM:619690
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures	OMIM:615066
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Pectus carinatum, Dental maloccl...	ORPHA:1855
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:619317
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
8P23.1 Microdeletion Syndrome	Wide nasal bridge, Obesity, Prominent nasal bridge, Micrognathia, Congenital diaphragmatic hernia...	ORPHA:251071
Fucosidosis	Brachycephaly, Lipoatrophy, Failure to thrive	ORPHA:349
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co...	OMIM:619334
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Limitation of joint mobility, Overlapping toe, Pes planus, Thoraco...	ORPHA:480880
Acrofrontofacionasal Dysostosis	Brachycephaly, Broad nasal tip, Dimple on nasal tip, Camptodactyly of finger	ORPHA:1784
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Retrognathia, Respiratory distress, Contra...	ORPHA:83617
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Failure to thrive, Depressed nasal tip, Obesity, Microgn...	OMIM:616364
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab...	ORPHA:1329
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Micrognathia, Microcephaly, Progr...	OMIM:617802
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Shallow acetabular fossae, Lumbar hyperlordosis, Hypoplastic pelvis, Microdontia, ...	ORPHA:1830
Facioscapulohumeral Muscular Dystrophy 1	Shoulder girdle muscle weakness, Calf muscle hypertrophy, Dysphagia, Scapular winging, Tongue atr...	OMIM:158900
Babesiosis	Myocardial infarction, Congestive heart failure	ORPHA:108
Distal Deletion 10Q	Wide nasal bridge, Failure to thrive, Prominent nose, Prominent nasal bridge, Micrognathia, Micro...	ORPHA:96148
Zttk Syndrome	Small hand, Narrow mouth, Feeding difficulties in infancy, High palate, Short foot, Hypoplasia of...	OMIM:617140
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Long philtrum, Elbow flexion contracture, 11 ...	OMIM:618947
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Broad thumb, Feeding difficulties, Subglottic stenosis, Micrognathia, Exaggerated cupi...	OMIM:614501
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Anteverted nares, Plagiocephaly	OMIM:618731
Chromosome 17P13.1 Deletion Syndrome	Depressed nasal bridge, Plagiocephaly, Umbilical hernia, Elbow flexion contracture, Bulbous nose,...	OMIM:613776
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Failure to thrive, Advanced eruption of teeth, Progressi...	OMIM:617865
Branchioskeletogenital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Downturned c...	ORPHA:1299
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Narrow chest, Abdominal distention, Abnormal pelvis bone ossification, Micromelia,...	ORPHA:93271
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Delayed eruption of teeth, Umbilical hernia, Campto...	ORPHA:915
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Bulbous nose, Anteverted nares, Microcephaly, Frontal bossing, Short nose	OMIM:614105
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Anal atresia, Syndactyly,...	OMIM:305450
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Holoprosencephaly-Craniosynostosis Syndrome	Microcephaly, Brachycephaly, Plagiocephaly, Craniosynostosis	ORPHA:2163
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Reduced left ventricul...	OMIM:613426
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst	OMIM:167800
Trisomy 20P	Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Anteverted nares, Micrognathia, Inguina...	ORPHA:261318
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Contractures of the large joints, Micrognathia, Mic...	ORPHA:3078
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia	OMIM:601216
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Prominent nasal bridge, Micrognathia, Decrease...	OMIM:300749
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Narrow mouth, Micrognathia, Crowded carpal bones, Absent frontal sin...	OMIM:102500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Short nose	OMIM:616910
Intellectual Developmental Disorder, Autosomal Dominant 64	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Micrognathia, Microcephaly	OMIM:619188
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac...	OMIM:311200
Distal Duplication 5Q	Carious teeth, Prominent nasal bridge, Micrognathia, Hernia, Microcephaly, Craniosynostosis, Shor...	ORPHA:96097
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Failure to thrive, Underdevelop...	OMIM:616835
Distal Deletion 6P	Abnormality of the dentition, Abnormal epiphysis morphology, Downturned corners of mouth, Microgn...	ORPHA:96125
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Mandibular prognathia	OMIM:615516
Myopathy And Diabetes Mellitus	Respiratory distress, Shoulder girdle muscle weakness, Hyporeflexia of upper limbs, Achilles tend...	ORPHA:2596
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Pectus carinatum, Abnormal clavicle morphology, Camptodactyly of ...	ORPHA:3138
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Microcephaly, Plagiocephaly	OMIM:614563
Prune1-Related Neurological Syndrome	Micrognathia, Microcephaly, Plagiocephaly	ORPHA:544469
Aspartylglucosaminuria	Abnormal vertebral morphology, Abnormality of the dentition, Mandibular prognathia, Carious teeth...	ORPHA:93
Mosaic Trisomy 20	Craniofacial asymmetry, Narrow chest, Cleft lip, Clinodactyly, Retrognathia, Micrognathia, Chroni...	ORPHA:1724
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s...	ORPHA:93317
Mccune-Albright Syndrome	Abnormal facial skeleton morphology, Dental malocclusion, Aneurysmal bone cyst, Gastroesophageal ...	ORPHA:562
Trisomy 12P	Wide nasal bridge, Micrognathia, Malar flattening, Turricephaly, Short nose	ORPHA:1699
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Mandibular prognathia, Brachy...	ORPHA:87
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Plagiocephaly, Failure to thrive, Microcephaly, Brachycephaly, Relative macrocephaly, Overweight,...	ORPHA:500055
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Long philtrum, Functional abnormality...	ORPHA:1340
Spinocerebellar Ataxia-Dysmorphism Syndrome	Dolichocephaly, Anteverted nares, Short nose, Macrocephaly	ORPHA:1185
2P15P16.1 Microdeletion Syndrome	Wide nasal bridge, Failure to thrive, Retrognathia, Camptodactyly of finger, Prominent nasal brid...	ORPHA:261349
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Bowing of the long bones, Abdominal distention	ORPHA:2088
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Dysphagia, Abnormal pattern of respiration	ORPHA:77260
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Failure to thrive, Trigonocephaly, Prominent nasal bridge, Microcephaly, Short...	OMIM:619179
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Long philtrum, Thin upper lip vermilion	OMIM:614741
Bainbridge-Ropers Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Failure to thrive, Underdeveloped nas...	OMIM:615485
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cutaneous syndactyly of toes, Cleft lip, Cleft upper lip, Cutaneous finger syndactyly, Micrognath...	OMIM:225060
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, Sinu...	OMIM:242860
Intellectual Developmental Disorder, X-Linked 30	Microcephaly, Anteverted nares, Prominent nasal bridge, Short nose	OMIM:300558
Renal And Mullerian Duct Hypoplasia	Micrognathia, Frontal bossing, Short nose	OMIM:266810
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Abnormal form of the vertebral bodies, Micrognathia,...	ORPHA:1305
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Congenital diaphragmatic hernia, Short nose	OMIM:300887
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Mandibular prognathia, Plagiocephaly, Underdeveloped nasal alae, Antevert...	OMIM:619720
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Short distal phalanx of finger, Abnormal pelvic girdle bone morp...	ORPHA:289
Dubowitz Syndrome	Carious teeth, Gastroesophageal reflux, Velopharyngeal insufficiency, Delayed eruption of teeth, ...	OMIM:223370
Autism Spectrum Disorder Due To Auts2 Deficiency	Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti...	ORPHA:352490
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Hb Bart'S Hydrops Fetalis	Pericarditis, Congestive heart failure	ORPHA:163596
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, Pes planus, Hi...	ORPHA:221120
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Cleft soft palate, Osteochondrosis, Dysphagia, Gastroesophageal reflux, Polydactyl...	ORPHA:268261
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Limitation of joint mobility, Joint swelling, Hip...	ORPHA:169805
Autism, Susceptibility To, 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:608049
Ohdo Syndrome, Sbbys Variant	Long hallux, Feeding difficulties, Micrognathia, Long thumb, Microdontia, Thin upper lip vermilio...	OMIM:603736
Mandibuloacral Dysplasia Progeroid Syndrome	Thin ribs, Delayed cranial suture closure, Decreased fibular diameter, Dysplasia of the femoral h...	OMIM:619127
Blepharophimosis-Impaired Intellectual Development Syndrome	Wide nasal bridge, Plagiocephaly, Dental malocclusion, Underdeveloped nasal alae, Anteverted nare...	OMIM:619293
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia, Congenital diaphragmatic hernia	OMIM:166300
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Bruxism, Sensorineural hearing impairment, Protruding ear, Aggressive behavior, Att...	OMIM:618342
X-Linked Centronuclear Myopathy	Respiratory distress, High palate, Feeding difficulties in infancy, Poor suck	ORPHA:596
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607748
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Feeding difficulties	ORPHA:26792
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Plagiocephaly, Anteverted nares, Micrognathia, Macrocephaly, Camptodactyl...	OMIM:617822
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Motor stereotypy, Dysphagia, Disinhibition	OMIM:612069
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel mo...	ORPHA:1812
Faciocardiorenal Syndrome	Wide nasal bridge, Plagiocephaly, Failure to thrive, Underdeveloped nasal alae	ORPHA:1973
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Brachydactyly...	OMIM:619680
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, High palate, C...	OMIM:266920
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Triceps weakness, Calf muscle hypertrophy, Thigh hype...	ORPHA:86812
Infantile Sialic Acid Storage Disease	Congestive heart failure	OMIM:269920
Acromicric Dysplasia	Bulbous nose, Anteverted nares, Short nose	ORPHA:969
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Feeding difficult...	OMIM:301022
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Microcephaly, Broad nasal tip, Short nose	OMIM:615716
Fetal Akinesia Deformation Sequence 1	Thin ribs, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Elbow ankylosis, Hig...	OMIM:208150
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Choanal atresia, Depressed nasal ridge, Frontal bossing, Brachyturricephaly	OMIM:607597
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Micrognathia, Feeding difficulties in infancy, Brachydactyly, Camptodactyly, Clinodact...	OMIM:619123
Gaucher Disease, Perinatal Lethal	Hepatic failure, Everted upper lip vermilion, Retrognathia, Thoracic hypoplasia, Respiratory dist...	OMIM:608013
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Pursed lips, Feeding difficulties, Micrognathi...	ORPHA:254519
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Pectus carinatum, Dental malocclusion, Retrognathia, Camptodactyly of finger, Osteoc...	ORPHA:284984
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Sandal gap, Broad hallux, Long philtrum, Ankyloglossia, Lumbar hy...	OMIM:616078
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Depressed nasal tip, M...	OMIM:610828
Cerebrooculonasal Syndrome	Proboscis, Anteverted nares, Prominent nasal bridge, Malar flattening, Brachycephaly, Macrocephal...	OMIM:605627
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Anteverted nares, Frontal bossing, Small for gestational age, Short nose,...	OMIM:613320
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Butterfly vertebrae, Submucous cleft hard palate, Tracheoesophageal fistula, Esopha...	OMIM:619227
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal...	OMIM:314390
Craniofacioskeletal Syndrome	Small hand, Tracheal stenosis, Micrognathia, Hypoplastic frontal sinuses, Barrel-shaped chest, Th...	OMIM:300712
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Secondary micr...	OMIM:619229
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Malar flattening, Brach...	OMIM:603116
Malan Overgrowth Syndrome	Depressed nasal bridge, Plagiocephaly, Scaphocephaly, Macrocephaly, Frontal bossing	ORPHA:420179
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Large for gestational age, Anteverted nares, Microg...	OMIM:213980
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Anteverted nares, Brachycephaly, Flat occiput	OMIM:618797
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Tr...	OMIM:616367
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat...	ORPHA:1880
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Death in ...	OMIM:211530
Charcot-Marie-Tooth Disease Type 4C	Tongue atrophy, Tongue fasciculations, Difficulty in tongue movements, Abnormal foot morphology, ...	ORPHA:99949
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Cleft lip, Oligodactyly, Malar flattening, Submucous cleft soft pala...	ORPHA:69085
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Bilateral single transverse palmar c...	ORPHA:199
Kury-Isidor Syndrome	Brachycephaly, Anteverted nares, Frontal bossing	OMIM:619762
Dk1-Cdg	Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	ORPHA:91131
Severe Intellectual Disability And Progressive Spastic Paraplegia	Difficulty walking, Motor stereotypy, Waddling gait	ORPHA:280763
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Anteverted nares, Inguinal hernia, Macrocephaly, Short nose	OMIM:613735
Birk-Barel Syndrome	Bifid uvula, Microretrognathia, Tented upper lip vermilion, Submucous cleft soft palate, High pal...	OMIM:612292
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Arthrogryposis multiplex congenita, Internally rotated shoulders, Cleft soft palate, Narrow mouth...	OMIM:619503
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Carious teeth, Failure to thrive, Anteverted nares, Inguinal hernia, Malar flatt...	ORPHA:357074
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Plagiocephaly, Underdeveloped nasal alae, Anteverted nares, Micrognathia,...	OMIM:619005
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Depressed nasal bridge, Plagiocephaly, Secondary microcephaly, Bulbous nose, Anteverted nares, Pr...	OMIM:610759
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Gastroesophageal reflux, Vomiting, Respiratory distress, Apnea, Short humerus, Polydactyly, Orofa...	ORPHA:17
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Abnormality of the dent...	ORPHA:1596
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Eunuchoid habitus, Cleft ala nasi, Narrow nasal base, Mandibular progn...	ORPHA:3044
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Congestive heart failure, Hypertrophic cardi...	ORPHA:528
Auriculocondylar Syndrome 3	Micrognathia, Bifid uvula, Glossoptosis, Retrognathia	OMIM:615706
Omodysplasia 1	Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,...	OMIM:258315
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr...	OMIM:166220
Immunodeficiency 95	Respiratory distress	OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Plagiocephaly, Prominent nose, Wide nasal ridge, Macrocephaly	ORPHA:251061
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hearing impairment, Inability to walk, Recurrent hand flapping, Gait ataxia, Aggressive behavior,...	OMIM:619580
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis...	OMIM:242900
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Failure to thrive, Delayed eruption of teeth, A...	OMIM:247200
Cerebrooculonasal Syndrome	Abnormal nostril morphology, Brachycephaly	ORPHA:66625
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Failure to thrive, Narrow nose, Congenital diaphragmatic hernia, Camptodactyly, Lo...	OMIM:617602
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Short nose	OMIM:619736
Monosomy 9P	Choanal atresia, Depressed nasal bridge, Trigonocephaly, Anteverted nares, Calvarial skull defect...	ORPHA:261112
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxil...	OMIM:608156
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Camptodactyly, Flexion contracture, ...	OMIM:610015
Carnitine Deficiency, Systemic Primary	Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiomyopathy, Congestive heart failure	OMIM:212140
Pleural Mesothelioma	Respiratory distress, Dyspnea, Dysphagia, Abnormal thorax morphology	ORPHA:50251
Meier-Gorlin Syndrome 7	Narrow mouth, Aplasia/Hypoplasia of the patella, Anal atresia, High palate, Dislocated radial hea...	OMIM:617063
Pterygium Colli, Isolated	Short nose	OMIM:177990
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	OMIM:614744
Peho Syndrome	Anteverted nares, Malar flattening, Microcephaly, Biparietal narrowing, Flexion contracture, Arth...	ORPHA:2836
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Failure to thrive, Bulbous nose, Anteverted nares, Progressive microce...	ORPHA:481152
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Clinodactyly, Micrognathia, Malar flattening, High palate, Pectus exc...	OMIM:609944
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Camptodactyly of finger, Bulbous nose, Anteverted nares, Absent nasal bridge, ...	ORPHA:261211
Distal Deletion 3P	Umbilical hernia, Anteverted nares, Micrognathia, Inguinal hernia, Microcephaly, Brachycephaly	ORPHA:1620
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Feeding difficulties in infancy, Scoliosis, Dysphagia	ORPHA:254875
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Delayed eruption of permanent teeth, Microcephaly, Brachycephaly, Mandibular p...	ORPHA:521445
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Bulbous nose, Micrognathia, Microcephaly, Dolichocephaly, Craniosynostosi...	OMIM:614114
Diamond-Blackfan Anemia 1	Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Short ...	OMIM:105650
Arthrogryposis, Distal, Type 4	Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Cranial asymmetr...	OMIM:609128
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Anteriorly placed anus, Tooth agenesi...	ORPHA:1555
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity, Anteverted nares, Short nose	OMIM:619854
Alagille Syndrome	Failure to thrive, Micrognathia, Brachycephaly, Long nose, Frontal bossing	ORPHA:52
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Microcephaly, Obesity, Plagiocephaly, Macrocephaly	OMIM:618089
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Brachycephaly, Micrognathia, Microcephaly	OMIM:156610
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Pachyonychia Congenita	Natal tooth, Palmoplantar keratoderma, Palmoplantar blistering, Oral leukoplakia, Respiratory dis...	ORPHA:2309
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, S...	ORPHA:420794
Beck-Fahrner Syndrome	Microcephaly, Brachycephaly, Macrocephaly	OMIM:618798
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Plagiocephaly, Prominent nasal bridge, Brachyc...	ORPHA:794
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Retrognathia, Decreased liver function, Overlapping fingers, Micrognathi...	OMIM:608779
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Atypical scarring of skin, Abnormal dental enamel morphology, Micr...	OMIM:601701
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Plagiocephaly, Failure to thrive, Frontal bossing, Bulbous nose, Micrognat...	OMIM:619512
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Anal atresia, Synd...	OMIM:607323
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Vomiting, Diarrhea, Feeding difficulties	OMIM:612075
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M...	OMIM:620292
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Obesity, Plagiocephaly, Frontal bossing	OMIM:617296
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Motor stereotypy, Hearing impairment, Macrotia	OMIM:619877
Immune-Mediated Necrotizing Myopathy	Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure	ORPHA:206569
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Small hand, Gastroesophageal reflux, Elbow flexion contracture, Gingival ...	OMIM:619777
Steinfeld Syndrome	Abnormal vertebral morphology, Bifid uvula, Median cleft palate, Missing ribs, Aplasia/Hypoplasia...	OMIM:184705
White-Sutton Syndrome	Depressed nasal bridge, Broad nasal tip, Obesity, Inguinal hernia, Congenital diaphragmatic herni...	ORPHA:468678
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of blood circulation, C...	ORPHA:860
Diamond-Blackfan Anemia 10	Respiratory distress, Micrognathia, Malar flattening, Supernumerary ribs, Cleft palate	OMIM:613309
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Pes planus, Everted lower lip vermilion, D...	OMIM:615873
Malaria	Respiratory distress, Nausea and vomiting	ORPHA:673
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Hand clenching, Dysphagia	ORPHA:240103
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Flexion contractur...	OMIM:613870
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Protruding tongue, Single transverse palmar crease, Joint hypermobili...	OMIM:617062
Apert Syndrome	Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, D...	OMIM:101200
Menkes Disease	Microcephaly, Brachycephaly	OMIM:309400
Opsismodysplasia	Depressed nasal bridge, Macrocephaly, Frontal bossing, Short nose, Flat occiput	ORPHA:2746
Neurofaciodigitorenal Syndrome	Hypoplasia of the premaxilla, Plagiocephaly, Prominent nasal bridge, Brachycephaly, Mandibular pr...	ORPHA:2673
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear...	ORPHA:444013
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Gastroesophageal reflux, Downturned corners of mouth, ...	ORPHA:444077
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	2-3 toe cutaneous syndactyly, Retrognathia, Micrognathia, Narrow mouth, Down-sloping shoulders, L...	OMIM:301091
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Prominent nose, Anteverted nares, Omphalocele, Macroce...	OMIM:618316
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Prominent nose, Brachycephaly	OMIM:619244
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Ovarian neoplasm, Congestive heart failure	ORPHA:137608
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Carious teeth, Failure to thrive, Anteverted nares, Micrognathia, Microce...	OMIM:244450
Congenital Disorder Of Glycosylation, Type Iit	Microcephaly, Brachycephaly, Prominent nasal bridge	OMIM:618885
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Craniorachischisis	Bifid sternum, Sirenomelia, Anal atresia	ORPHA:63260
De Barsy Syndrome	Failure to thrive, Delayed eruption of teeth, Umbilical hernia, Inguinal hernia, Brachycephaly, L...	ORPHA:2962
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Inguinal hernia, Brachycephaly, Tr...	OMIM:227330
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv...	OMIM:618825
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Plagiocephaly, Broad nasal tip, Inguinal hernia, Microcephaly	OMIM:618106
Menke-Hennekam Syndrome 2	Cutaneous syndactyly of toes, Sandal gap, Agenesis of permanent teeth, Overlapping toe, Micrognat...	OMIM:618333
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Congestive heart failure, Abnormal scrotum morphology, Cryptorchidism, Hypospadias	ORPHA:2505
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Hypoplasia of the maxil...	ORPHA:861
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of teeth, S...	OMIM:249620
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Narrow chest, Hepatic failure, Abdominal distention, Micrognathia, Al...	ORPHA:1655
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Feeding difficulties in infancy, Dysphagia, Hypoplasia of the maxilla, Gastroesop...	ORPHA:500150
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Secondary microcephaly, Anteverted nares, Short nose	OMIM:618437
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Large earlobe, Motor stereotypy, Inability to walk, Prominent ear helix	ORPHA:411986
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Prominent occiput, Micrognathia, Inguinal hernia, Macr...	ORPHA:7
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Brachycephaly, Plagiocephaly	OMIM:619435
Refsum Disease, Classic	Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Finger swelling, Kyphosis, Wrist swelling, Rickets,...	OMIM:309000
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Elsahy-Waters Syndrome	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Dental malocclusion, Delayed erupt...	OMIM:211380
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Brachycephaly, Micrognathia	ORPHA:2062
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly	ORPHA:1173
American Trypanosomiasis	Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:3386
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose	OMIM:300143
Graves Disease	Congestive heart failure	OMIM:275000
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Umbilical hernia, Inguinal hernia, Mandibular progn...	OMIM:601499
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea, Abdominal distention	ORPHA:79097
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Long philtrum, Ankyloglossia, Clinodactyly of the 5th finger, Joint ...	ORPHA:250989
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Internal hemorrhage, Congestive heart failure	ORPHA:90308
Distal Deletion 9P	Hernia, Trigonocephaly, Short nose, Wide nasal bridge	ORPHA:1642
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor stereotypy	OMIM:619725
Bannayan-Riley-Ruvalcaba Syndrome	Anteverted nares, Micrognathia, Dolichocephaly, Cachexia, Macrocephaly, Lipoma, Frontal bossing, ...	ORPHA:109
Developmental And Epileptic Encephalopathy 1	Microcephaly, Plagiocephaly	OMIM:308350
Peho Syndrome	Progressive microcephaly, Retrognathia, Short nose	OMIM:260565
Diamond-Blackfan Anemia	Cleft lip, Absent thumb, Short thumb, Abnormality of the thenar eminence, Cleft soft palate, Micr...	ORPHA:124
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Failure to thrive, Anteverted nares, Inguinal herni...	OMIM:305400
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Failure to thrive, Retrognathia, Microcephaly, Joint contracture, Short nose	OMIM:618005
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Abnormality of the dentition, Micr...	ORPHA:90154
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Microretrognathia, Bulbous nose, Dolichocephaly, Frontal bossing, Short nose	OMIM:618571
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Gastroesophageal reflux, Dental crowding, Synostosis of the proximal phalanx...	OMIM:300967
Coffin-Lowry Syndrome	Depressed nasal bridge, Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of...	ORPHA:192
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Cleft lip, Gastroesophageal reflux, Furrowed tongue, Lumbar hyperlordosis,...	OMIM:616975
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Inability to walk, Bruxism, Chorea, Motor stereotypy, Macrotia	OMIM:618004
Hartnup Disorder	Glossitis	OMIM:234500
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Biparietal narrowing, Underdeveloped nasal alae, Short nose	ORPHA:2031
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Gastroesophageal reflux, Short thumb, Ridged cranial sutures, Delaye...	OMIM:619325
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta, Brachycephaly	OMIM:610968
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Microcephaly, Mandibular prognathia, Short nose	ORPHA:261144
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Talipes equinovarus, Areflexia of upper limbs, Areflexia of lower limbs, Scoliosis	OMIM:616155
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormal f...	ORPHA:581
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Osteoporosis, Rickets, Death in childhood	OMIM:560000
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Hypogonadotropic hypogonadism, Arr...	ORPHA:465508
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal oral mucosa morphology, Vomiting, Malnutrition, Respirato...	ORPHA:79404
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Failure to thrive, Retrognathia, Narr...	OMIM:617157
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s...	OMIM:617600
Wolf-Hirschhorn Syndrome	Micrognathia, Radioulnar synostosis, Talipes equinovarus, Short hallux, Hip dislocation, Gastroes...	OMIM:194190
Prolidase Deficiency	Depressed nasal bridge, Failure to thrive, Micrognathia, Concave nasal ridge, Short nose	OMIM:170100
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Pes cavus, Quadriceps muscle atrophy, Intrinsic hand muscle atrophy, Hyper...	OMIM:620285
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Micrognathia, Rec...	OMIM:604173
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Abnormal mandible morphology, Respiratory distress, A...	ORPHA:93958
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure	ORPHA:500533
Walker-Warburg Syndrome	Bifid uvula, Cleft palate, Metatarsus valgus, Submucous cleft hard palate	ORPHA:899
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, M...	OMIM:615866
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Foot joint contracture, Failure to thrive, Secondary microcephaly,...	ORPHA:456312
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long philtrum, Open bite, Micrognathia, Down-sloping shoulders, Joint hypermob...	ORPHA:1974
Fg Syndrome Type 1	Choanal atresia, Plagiocephaly, Umbilical hernia, Slender build, Prominent nose, Prominent occipu...	ORPHA:93932
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Short nose	ORPHA:2701
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Prominent antihelix, Difficulty walking, Gait ataxia, Motor stereotypy	OMIM:617807
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Abdominal dist...	OMIM:270400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Plagiocephaly, Microretrognathia, Prominent nasal bridge, Microcephaly, Craniosy...	ORPHA:457193
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Nasogastric tube feeding, Feeding difficult...	ORPHA:466943
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Depressed nasal bridge, Brachycephaly, Broad skull	OMIM:277600
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Failure to thrive	OMIM:301108
Solar Urticaria	Dyspnea, Nausea, Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
3-Methylglutaconic Aciduria, Type Viib	Brachioradialis areflexia, Rhizomelia, Respiratory distress, Micrognathia, Trismus, Tube feeding,...	OMIM:616271
Coccidioidomycosis	Respiratory distress, Broad ribs, Osteomyelitis, Abnormal long bone morphology, Peritonitis, Abno...	ORPHA:228123
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration, High palate, Feeding difficulties	OMIM:604377
Gorlin Syndrome	Wide nasal bridge, Mandibular prognathia, Carious teeth, Abnormality of the sense of smell, Brach...	ORPHA:377
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Frontal bossing, Short nose	OMIM:256600
Intellectual Developmental Disorder, Autosomal Dominant 34	Bruxism, Broad-based gait, Motor stereotypy, Hearing impairment	OMIM:616351
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Microcephaly, Brachycephaly, Mandibular prognathia	ORPHA:1236
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Broad nasal tip, Bulbous nose, Trigonocephaly, Micrognathia, Microcephaly...	OMIM:309590
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Prominent nasal bridge, Hypo...	ORPHA:50814
Restrictive Dermopathy	Thin ribs, Osteopenia, Microcolon, Natal tooth, Structural foot deformity, Arthrogryposis multipl...	ORPHA:1662
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Tetrasomy 18P	Microcephaly, Short nose	ORPHA:3307
Classic Multiminicore Myopathy	Right ventricular failure, Congestive heart failure	ORPHA:324604
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, High palate, Short foot, Dysphagia, Short 5th finger, Gastroesop...	OMIM:607872
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Ankle swelling, Vomiting, Swelling of proximal interphalangeal joints, Respiratory...	ORPHA:3260
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Anteverted nares, Short nose	ORPHA:1914
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy, Dysphagia	ORPHA:216873
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Dysphagia	OMIM:613561
Episodic Ataxia Type 1	Hand clenching, Respiratory distress, Kyphoscoliosis, Calf muscle hypertrophy, Nausea, Scoliosis	ORPHA:37612
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Proximal muscle weakness in upper limbs, Hand muscle weakness, Pes cavus, Distal ...	ORPHA:101085
Al-Raqad Syndrome	Microcephaly, Short nose	OMIM:616459
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Failure to thrive, Micrognathia, Inguin...	OMIM:613457
Werner Syndrome	Congestive heart failure, Hypogonadism, Telangiectasia of the skin, Aplasia/Hypoplasia of the tes...	ORPHA:902
Alg9-Cdg	Depressed nasal bridge, Microretrognathia, Underdeveloped nasal alae, Micrognathia, Brachycephaly...	ORPHA:79328
Tetanus	Respiratory distress, Stiff neck, Tachypnea, Trismus, Abdominal pain, Dysphagia, Bowel incontinence	ORPHA:3299
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Microglossia, Narrow mouth, Mandibular aplasia	ORPHA:990
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Malar flattening, Brachycephal...	OMIM:601088
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Malar flattening, Brachycephaly, Camptodactyly, Short nose	OMIM:601353
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Abnormal tibia morphology, Talipes...	ORPHA:1335
16P12.1P12.3 Triplication Syndrome	Failure to thrive, Retrognathia, Bulbous nose, Malar flattening, Short nose	ORPHA:485405
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev...	OMIM:261740
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Respiratory distress, Reye syndrome-like episodes, Nausea, Feeding difficulti...	ORPHA:927
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t...	ORPHA:293939
Houge-Janssens Syndrome 2	Microcephaly, Anteverted nares, Plagiocephaly	OMIM:616362
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Inguinal her...	ORPHA:1101
7Q11.23 Microduplication Syndrome	Broad nasal tip, Dental malocclusion, Retrognathia, Obesity, Micrognathia, Abnormal columella mor...	ORPHA:96121
Fetal Hydantoin Syndrome	Hernia, Depressed nasal ridge, Microcephaly, Short nose	ORPHA:1912
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Self-mutilation, Gait disturbance, Motor stereotypy, Macrotia	ORPHA:457240
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Malar flattening, Mandibular prognathia, Short...	OMIM:239300
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Bifid uvula, Broad uvula, Abnormal sternum morphology, Osteochondritis dissec...	OMIM:619656
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Microcephaly...	OMIM:617061
Succinic Acidemia	Respiratory distress	OMIM:600335
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Mi...	OMIM:619445
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Microcephaly, Mandibular prognathia, Short nose	OMIM:618087
Congenital Disorder Of Deglycosylation 1	Small hand, Oral-pharyngeal dysphagia, Respiratory distress, Open mouth, Single transverse palmar...	OMIM:615273
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Retrognathia, Camptodactyly of finger, Micrognathia, Bilateral single transverse pal...	ORPHA:3047
Coffin-Siris Syndrome 7	Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul...	OMIM:618027
Ring Chromosome 22 Syndrome	2-3 toe syndactyly, Protruding tongue, Large hands, Thick vermilion border	ORPHA:1446
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Proximal muscle weakness in upper limbs, Respiratory distress, Calf muscle hypertrophy, Dysphagia...	OMIM:620375
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper lip, Preaxial foot polyd...	OMIM:603671
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact...	OMIM:300986
Long-Olsen-Distelmaier Syndrome	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart fai...	OMIM:620609
Cowden Syndrome 5	Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, Hama...	OMIM:615108
Fabry Disease	Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M...	OMIM:301500
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip...	OMIM:613662
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Respiratory distress, Tracheoesophageal fistula, Dyspnea, Dysphagia	ORPHA:142
Jacobsen Syndrome	Depressed nasal bridge, Failure to thrive, Trigonocephaly, Anteverted nares, Micrognathia, Microc...	OMIM:147791
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Gastroesophageal reflux, Micrognath...	OMIM:617913
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Bresek Syndrome	Microcephaly, Plagiocephaly, Convex nasal ridge	ORPHA:85284
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Pes cavus, Adenocarcinoma of the colon, Multiple enchondromatosis, Hammertoe	OMIM:620189
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Bulbous nose, Anteverted nares, Prominent nasal bridge, Thickened calvaria, Brachycephaly, Mandib...	OMIM:309583
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Acrofacial Dysostosis, Catania Type	Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Inguinal hernia, Microcephaly...	ORPHA:1786
Distal Deletion 12Q	Overlapping toe, Micrognathia, Large hands, Duodenal atresia, High, narrow palate, Median cleft u...	ORPHA:96149
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Genu valgum, Smooth philt...	OMIM:619321
Fraser Syndrome	Anal stenosis, Toe syndactyly, Dental malocclusion, Finger syndactyly, Dental crowding, Cleft upp...	ORPHA:2052
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Microphthalmia, Syndromic 2	Hand clenching, Contracture of the proximal interphalangeal joint of the 2nd toe, Radioulnar syno...	OMIM:300166
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hypertension, Polycystic ovaries, Congestive heart failure	ORPHA:79083
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Failure to thrive, Anteverted nares, Sinusitis, Frontal bossing	ORPHA:238468
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve...	ORPHA:438216
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Motor stereotypy	OMIM:615637
Vacterl With Hydrocephalus	Absence of the sacrum, Abnormal form of the vertebral bodies, Retrognathia, Micrognathia, Tracheo...	ORPHA:3412
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Micrognathia, Short lingual fr...	ORPHA:740
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Anteverted nares, Brachycephaly, Macrocephaly, Frontal bossing	OMIM:616728
Tolchin-Le Caignec Syndrome	Micrognathia, Narrow mouth, Submucous cleft hard palate, Arachnodactyly, Clinodactyly of the 5th ...	OMIM:618971
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Large for gestational age, Anteverted nares, Micrognathia, Congenital dia...	OMIM:614080
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Feeding difficulties	OMIM:616733
Athyreosis	Macroglossia, Constipation, Feeding difficulties, Abdominal distention	ORPHA:95713
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Polycystic ovaries, Congestive heart failure	ORPHA:2348
Hoxha-Aliu Syndrome	Wide nasal bridge, Brachycephaly, Inguinal hernia, Contracture of the proximal interphalangeal jo...	OMIM:620662
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Scissor gait, Spastic g...	OMIM:619121
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla	ORPHA:782
Mucolipidosis Type Ii	Narrow chest, Kyphosis, Limitation of joint mobility, Limited wrist movement, Decreased movement ...	ORPHA:576
Craniofrontonasal Syndrome	Wide nasal bridge, Bifid nasal tip, Coronal craniosynostosis, Umbilical hernia, Congenital diaphr...	OMIM:304110
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy	OMIM:301094
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Broad foot, Pes planus, Tube feeding, Slender finger, Cone-shaped ep...	OMIM:619841
Intellectual Developmental Disorder, Autosomal Dominant 53	Microcephaly, Posterior plagiocephaly, Brachycephaly, Macrocephaly	OMIM:617798
C Syndrome	Toe syndactyly, Limitation of joint mobility, Micrognathia, Bilateral single transverse palmar cr...	ORPHA:1308
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Clinodactyly, Talipes calcaneovalgus, Genu valgum, Open mouth, Protruding tongue, Micrognathia, T...	OMIM:309580
Lathosterolosis	Failure to thrive, Bulbous nose, Anteverted nares, Micrognathia, Microcephaly, Biparietal narrowi...	ORPHA:46059
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:618961
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Posterior plagiocephaly, Broad nasal tip, Mandibular prognathia, Umbilical her...	OMIM:620330
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hypogonadism, Oligozoospermia, Abnormal te...	ORPHA:85450
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Heart murmur, Congestive heart failure	ORPHA:1054
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Plagiocephaly, Delayed eruption of teeth, Microcephaly, Brachycephaly, Truncal obesity, Limb join...	OMIM:301072
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Pes planus, Dysphagia, B...	ORPHA:261537
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Plagiocephaly, Bulbous nose, Microcephaly, Brachycephaly, Wide nose	ORPHA:495818
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear...	OMIM:620646
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Frontal bossing, Secondary microcephaly, Micrognathia, Microcephaly, Low hanging c...	OMIM:617193
Andersen-Tawil Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Scaphocephaly, Micrognathia, Persiste...	ORPHA:37553
Wolman Disease	Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention	OMIM:620151
Cowden Syndrome 6	Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, Hama...	OMIM:615109
Cri-Du-Chat Syndrome	Low-set ears, Hearing impairment, Difficulty walking, Stenosis of the external auditory canal, Op...	OMIM:123450
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Narrow mouth, Synovitis, Irregular sclerotic endplates, Hypoplastic ilia, Osteopenia...	ORPHA:3455
Cardioacrofacial Dysplasia 1	Overhanging nasal tip, Hypoplasia of the maxilla	OMIM:619142
Snijders Blok-Campeau Syndrome	Low-set ears, Broad-based gait, Attention deficit hyperactivity disorder, Unsteady gait, Motor st...	OMIM:618205
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere...	OMIM:610042
X-Linked Intellectual Disability, Armfield Type	Depressed nasal bridge, Micrognathia, Inguinal hernia, Brachycephaly, Macrocephaly, Mandibular pr...	ORPHA:85276
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Peg-shaped maxillary lateral incisors, Abnormalit...	ORPHA:199306
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Polydactyly,...	ORPHA:769
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Johanson-Blizzard Syndrome	Failure to thrive, Underdeveloped nasal alae, Delayed eruption of teeth, Microcephaly, Abnormal n...	ORPHA:2315
Mowat-Wilson Syndrome	Tooth malposition, Genu valgum, Open mouth, Pes planus, Everted lower lip vermilion, Dysphagia, B...	ORPHA:2152
Alazami Syndrome	Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere...	ORPHA:319671
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Brachycephaly, Mandibular prognathia, Malar flattening	OMIM:201180
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin...	ORPHA:449291
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Broad clavicles, Delayed eruption of teeth, Rhizomelic arm shortening, Gingival overgrowth, Abnor...	ORPHA:508542
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Radial deviation of finger, Camptodactyly ...	OMIM:249000
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties	ORPHA:79312
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Gastroesophageal reflux, Sandal gap, C...	ORPHA:870
Neuroocular Syndrome 1	Genu recurvatum, Short uvula, Prominent fingertip pads, Downturned corners of mouth, Tibial torsi...	OMIM:619539
Trichothiodystrophy 1, Photosensitive	Retrognathia, Absence of subcutaneous fat, Microcephaly, Flexion contracture, Small for gestation...	OMIM:601675
Bifid Nose With Or Without Anorectal And Renal Anomalies	Bifid nose, Bulbous nose, Brachycephaly	OMIM:608980
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension	ORPHA:525731
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Retrognathia, Anteverted nares, Micrognathia, Pr...	ORPHA:171929
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Failure to thrive, Underdeveloped nasal alae, Secondary microcephaly, Ant...	OMIM:300912
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Double Outlet Right Ventricle	Intestinal malrotation, Feeding difficulties, Narrow mouth, Submucous cleft hard palate, Abnormal...	ORPHA:3426
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morphology, Short nose	ORPHA:1295
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp...	ORPHA:183
Laryngotracheal Angioma	Vomiting, Intercostal retractions, Respiratory distress, Apnea, Feeding difficulties	ORPHA:137935
Celiac Disease, Susceptibility To, 1	Diarrhea, Rickets, Vomiting, Recurrent aphthous stomatitis, Abdominal pain, Enamel hypoplasia, Os...	OMIM:212750
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Microcephaly, Hypoplasia of teeth, Short nose	OMIM:234050
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia	OMIM:618504
Ruvalcaba Syndrome	Convex nasal ridge, Microcephaly, Inguinal hernia, Short nose	ORPHA:3121
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Hereditary Angioedema Type 1	Diarrhea, Vomiting, Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Nausea,...	ORPHA:100050
Alpha-Mannosidosis, Infantile Form	Depressed nasal bridge, Cranial hyperostosis, Umbilical hernia, Abnormality of the sphenoid sinus...	ORPHA:309282
Radio-Tartaglia Syndrome	Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Gait imbalance, A...	OMIM:619312
Leukocyte Adhesion Deficiency Type Ii	Overlapping toe, Gingival overgrowth, Protruding tongue, Chronic diarrhea, Recurrent gastroenteri...	ORPHA:99843
Duplication Of The Pituitary Gland	Retrognathia, Brachyturricephaly, Decreased body weight, Microcephaly, Supernumerary tooth	ORPHA:314621
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Plagiocephaly, Bulbous nose, Prominent nasal bridge, Prominent occiput, Microc...	OMIM:617360
Ring Chromosome 7 Syndrome	Wide nasal bridge, Plagiocephaly, Narrow naris, Anteverted nares, Prominent nasal bridge, Malar f...	ORPHA:1449
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Elbow contracture, Bulbous nose, Narrow nose, Micrognathia, Joint contracture	OMIM:615656
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Prominent nasal bridge, Short nose	ORPHA:401935
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Underdeveloped nasa...	ORPHA:306542
Developmental And Epileptic Encephalopathy 110	Microcephaly, Posterior plagiocephaly	OMIM:620149
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Micrognathia, Mandibular prognathia, Short nose	ORPHA:496790
Trisomy 18	Choanal atresia, Microretrognathia, Camptodactyly of finger, Prominent occiput, Congenital diaphr...	ORPHA:3380
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Tachypnea, Vomiting, Death in infancy	OMIM:614299
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Noonan Syndrome 13	Wide nasal bridge, Plagiocephaly, Anteverted nares, Micrognathia, Microcephaly	OMIM:619087
Tetraamelia Syndrome 2	Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Bilateral cleft lip, Glossoptosis, Cleft ...	OMIM:618021
Oculodentodigital Dysplasia	Carious teeth, Abnormality of the nose, Underdeveloped nasal alae, Umbilical hernia, Abnormal den...	ORPHA:2710
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Tachypnea, Dyspnea, Clubbing	OMIM:610913
Chand Syndrome	Short fifth metatarsal, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid ton...	ORPHA:1401
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar...	ORPHA:727
Primary Dystonia, Dyt4 Type	Respiratory distress, Open mouth, Kyphoscoliosis, Movement abnormality of the tongue, Dysphagia	ORPHA:98805
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Hypoplasia of the zygomatic bone	OMIM:614800
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Feeding difficulties in infancy	ORPHA:45452
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Blood pressure su...	ORPHA:2299
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Everted lower lip vermilion, Synda...	OMIM:612289
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Anteverted nares, Short nose	OMIM:616430
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Duodenal stenosis, Hypoplastic iliac wing, P...	OMIM:190685
Atypical Werner Syndrome	Chondrocalcinosis, Limitation of joint mobility, Finger clinodactyly, Neoplasm of the oral cavity...	ORPHA:79474
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Short nose, Bulbous nose	ORPHA:284169
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia	ORPHA:391307
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Nasal congestion, Thick nasal ...	ORPHA:79345
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Swollen lip	ORPHA:100057
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Fat malabsorption, Rickets	OMIM:211600
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Meckel Syndrome	Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Furrowed...	ORPHA:564
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Hypertension, Myocardial infarction, Congestive heart failure	OMIM:208000
Joubert Syndrome 1	Postaxial foot polydactyly, Clinodactyly, Episodic tachypnea, Triangular-shaped open mouth, Protr...	OMIM:213300
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Gapo Syndrome	Depressed nasal bridge, Plagiocephaly, Eruption failure, Umbilical hernia, Anteverted nares, Micr...	OMIM:230740
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Failure to thrive, Secondary microcephaly, Brachycephaly, Progressive microcephaly, Achilles tend...	OMIM:616263
Wiedemann-Rautenstrauch Syndrome	Depressed nasal bridge, Hypoplastic facial bones, Natal tooth, Failure to thrive, Delayed eruptio...	OMIM:264090
Potocki-Lupski Syndrome	Motor stereotypy, Hearing impairment, Oral-pharyngeal dysphagia, Hyperactivity	OMIM:610883
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Bronchopulmonary Dysplasia	Respiratory distress, Tracheobronchomalacia, Dyspnea, Central apnea	ORPHA:70589
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Anteverted nares, Inguinal hernia, Microcephaly, Dolichocephaly, Short nose	ORPHA:2719
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Abnormality of the hand, Gastrointestinal dy...	ORPHA:298
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Obesity, Micrognathia, Malar flattening, Brachycephaly...	ORPHA:369837
Carpenter Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Carious teeth, Dental malocclusion, Retrognathia, Narr...	OMIM:614976
Loeys-Dietz Syndrome	Bifid uvula, Pectus carinatum, Joint dislocation, Camptodactyly of finger, Micrognathia, Malar fl...	ORPHA:60030
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Depressed nasal bridge, Mandibular prognathia, Failure to thrive, Bulbous nose, Prominent nose, A...	OMIM:612474
Late Infantile Neuronal Ceroid Lipofuscinosis	Inability to walk, Obsessive-compulsive trait, Aggressive behavior, Gait disturbance, Hyperactivi...	ORPHA:168491
Loeys-Dietz Syndrome 3	Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, Talipes equinovarus, Pes p...	OMIM:613795
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Portal hypertension, Congestive heart failure	ORPHA:367
Cowden Syndrome 1	Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, Hama...	OMIM:158350
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Cardiomyopathy, Congestive heart failure	OMIM:616866
Dihydropyrimidinase Deficiency	Microcephaly, Plagiocephaly, Failure to thrive	OMIM:222748
48,Xxyy Syndrome	Attention deficit hyperactivity disorder, Motor stereotypy, Chronic otitis media, Ataxia	ORPHA:10
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Chro...	ORPHA:1051
Tularemia	Respiratory distress, Oral ulcer	ORPHA:3392
Intellectual Developmental Disorder, Autosomal Dominant 38	Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ...	OMIM:616393
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal a...	OMIM:209885
Mitochondrial Trifunctional Protein Deficiency 1	Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:609015
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Intestinal malrotation	ORPHA:2140
Aymé-Gripp Syndrome	Depressed nasal bridge, Plagiocephaly, Inguinal hernia, Congenital diaphragmatic hernia, Brachyce...	ORPHA:1272
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Mitral regurgitation, Congestive heart failure	ORPHA:423461
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Long hallux, Genu valgum, Open mouth, Arachnodactyly, Pes planus, Dysphagia, B...	ORPHA:261552
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Umbilical hernia, Prominent nasal bridge, Advanced eruption of teeth, Brachyce...	ORPHA:1519
Cerebrofacioarticular Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Micrognathia, M...	ORPHA:314679
Rett Syndrome	Difficulty walking, Bruxism, Inability to walk, Stereotypical hand wringing, Gait disturbance, Mo...	ORPHA:778
Monosomy 9Q22.3	Delayed eruption of teeth, Umbilical hernia, Trigonocephaly, Large for gestational age, Macroceph...	ORPHA:77301
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, Umbilical hernia, Bulbous nose, Narrow nose, Anteverte...	OMIM:618454
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
4Q21 Microdeletion Syndrome	Low-set ears, Self-injurious behavior, Motor stereotypy, Hearing impairment	ORPHA:238750
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Bulbous nose, Microcephaly, Progressive microcephal...	OMIM:615803
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Plagiocephaly, Delayed ...	OMIM:280000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Micrognathia, Turricephaly...	OMIM:620224
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia	ORPHA:746
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Respiratory distress, Posteri...	OMIM:306955
Hypomagnesemia 3, Renal	Vomiting, Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Feeding difficulties ...	OMIM:248250
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy	OMIM:616579
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dyspnea, Abdominal distention	OMIM:174050
Nipah Virus Disease	Respiratory distress, Nausea and vomiting, Anorexia	ORPHA:99825
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood, Feeding difficulties	OMIM:615597
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Motor stereotypy	OMIM:618067
Bacterial Toxic-Shock Syndrome	Diarrhea, Vomiting, Respiratory distress, Osteomyelitis, Abnormality of the lower limb, Nausea, T...	ORPHA:36234
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Widely spaced teeth, Limitation of movement at ankles, Protruding tongue, ...	ORPHA:98794
Recon Progeroid Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Prominence of the premaxilla...	OMIM:620370
Congenital Myopathy 13	Micrognathia, Microcephaly, Flexion contracture, Brachycephaly	OMIM:255995
Laryngomalacia	Respiratory distress	OMIM:150280
Rhombencephalosynapsis	Anteverted nares, Microretrognathia, Short nose, Macrocephaly	ORPHA:59315
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Depressed nasal tip, Contracture of the proximal interph...	OMIM:618223
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia	ORPHA:31824
1P21.3 Microdeletion Syndrome	Broad nasal tip, Obesity, Micrognathia, Macrocephaly, Short nose	ORPHA:293948
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Vomiting, Abdominal distention	ORPHA:313906
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Plagiocephaly, Mandibular prognathia, Vaginal hernia	ORPHA:2916
Jaberi-Elahi Syndrome	Depressed nasal bridge, Microcephaly, Failure to thrive, Short nose	OMIM:617988
Gm1 Gangliosidosis	Abnormal scrotum morphology, Cardiomyopathy, Congestive heart failure	ORPHA:354
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy, Dysphagia	OMIM:613435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Nausea and vomiting	ORPHA:289916
Waardenburg Syndrome Type 1	Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Short nose	ORPHA:894
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Omphalocele	ORPHA:371428
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Depressed nasal bridge, Elbow flexion contracture, Bulbous nose, Anteverted nares, Micrognathia, ...	ORPHA:508533
Galloway-Mowat Syndrome 4	Plagiocephaly, Primary microcephaly	OMIM:617730
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Motor stereotypy, Dysphagia	ORPHA:79264
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Underdeveloped nasal alae, Narr...	OMIM:129400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Brachycephaly, Flat occiput	ORPHA:2211
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Rauch-Steindl Syndrome	Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo...	OMIM:619695
Congenital Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Polydactyly	ORPHA:93400
Renpenning Syndrome 1	Wide nasal bridge, Joint contracture of the hand, Bulbous nose, Micrognathia, Malar flattening, M...	OMIM:309500
Intellectual Developmental Disorder, Autosomal Dominant 52	Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment...	OMIM:617796
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Congestive heart failure, Cryptorchidism, Micropenis, Hypospadias	OMIM:601808
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cessation of head growth, Contractures of the large joints, Failure to thrive, Micrognathia, Prog...	OMIM:617527
Micro Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Microcephaly, Short nose	ORPHA:2510
Khan-Khan-Katsanis Syndrome	Failure to thrive, Corneal scarring, Micrognathia, Microcephaly, Joint contracture, Frontal bossi...	OMIM:618460
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620502
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Oculodentodigital Dysplasia	Carious teeth, Underdeveloped nasal alae, Narrow nose, Narrow nasal bridge, Anteverted nares, Joi...	OMIM:164200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Unilateral cleft lip, Thick lower lip vermilion, Submucous cleft hard pala...	OMIM:619103
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Respiratory distress, Neonatal death, Nausea, Wide anterior fontanel	OMIM:231680
Avian Influenza	Diarrhea, Vomiting, Respiratory distress, Tachypnea, Dyspnea, Abdominal pain, Miscarriage	ORPHA:454836
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity	OMIM:618914
Galloway-Mowat Syndrome 6	Paroxysmal bursts of laughter, Motor stereotypy	OMIM:618347
Burning Mouth Syndrome	Strawberry tongue, Tongue pain, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Primary Effusion Lymphoma	Dyspnea, Abdominal pain, Abdominal distention	ORPHA:48686
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia	OMIM:300486
Genitopatellar Syndrome	Congenital hip dislocation, Anal stenosis, Malrotation of small bowel, Delayed eruption of teeth,...	OMIM:606170
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Failure to thrive, Microcephaly, Concave nasal ridge, Small for gestational age	OMIM:615471
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Tetraamelia Syndrome 1	Abnormal clavicle morphology, Abnormal scapula morphology, Cleft upper lip, Micrognathia, Hypopla...	OMIM:273395
Multiple Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:26791
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Hemive...	OMIM:271520
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Abdominal pain, Dysphagia, Feeding difficulties	OMIM:620166
Rett Syndrome, Congenital Variant	Bruxism, Chorea, Protruding ear, Tongue thrusting, Athetosis, Motor stereotypy	OMIM:613454
Small Bowel Atresia	Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F...	ORPHA:1201
Recurrent Respiratory Papillomatosis	Tracheomalacia, Respiratory distress, Tachypnea, Dyspnea, Dysphagia	ORPHA:60032
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Kbg Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Microcephaly, Brachycephaly	OMIM:148050
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Poly...	ORPHA:280365
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Raynaud phenomenon, Hypertensi...	ORPHA:91139
Alternating Hemiplegia Of Childhood	Skewfoot, Diarrhea, Abdominal distention, Downturned corners of mouth, Oral-pharyngeal dysphagia,...	ORPHA:2131
Mietens Syndrome	Wide nasal bridge, Microcephaly, Short nose, Wide nose	ORPHA:2557
Generalized Arterial Calcification Of Infancy	Vomiting, Osteomalacia, Respiratory distress, Abnormal hip joint morphology, Hypophosphatemic ric...	ORPHA:51608
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Lead Poisoning	Vomiting, Delayed eruption of teeth, Cranial hyperostosis, Anorexia, Nausea, Constipation, Abdomi...	ORPHA:330015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pectus carinatum, Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Barrel-shaped ches...	ORPHA:505248
Japanese Encephalitis	Genu recurvatum, Distal upper limb muscle weakness, Diarrhea, Vomiting, Abnormal pattern of respi...	ORPHA:79139
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Micrognathia, Feeding difficulties, Cleft soft palate, Submucous cleft soft palate	ORPHA:2282
Interatrial Communication	Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ...	ORPHA:1478
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Abnormality of the ging...	ORPHA:530
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Abnormal metacarpal morphology, Absent ra...	OMIM:268300
Lelis Syndrome	Carious teeth, Furrowed tongue, Hypodontia, Palmoplantar hyperkeratosis, Mandibular prognathia	ORPHA:140936
Monosomy 18Q	Aortic valve stenosis, Bilateral cryptorchidism, Congestive heart failure, Mitral regurgitation, ...	ORPHA:1600
Fructose-1,6-Bisphosphatase Deficiency	Diarrhea, Vomiting, Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apne...	ORPHA:348
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Feeding dif...	ORPHA:98795
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh...	OMIM:620066
Gm1-Gangliosidosis, Type I	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:230500
X-Linked Agammaglobulinemia	Osteomyelitis, Malabsorption, Chronic diarrhea, Arthritis, Sinusitis, Glossoptosis	ORPHA:47
Myhre Syndrome	Hypoplasia of the maxilla, Obesity, Prominent nasal bridge, Malar flattening, Thickened calvaria,...	OMIM:139210
Microform Holoprosencephaly	Choanal atresia, Narrow nasal bridge, Anteverted nares, Midnasal stenosis, Microcephaly, Short nose	ORPHA:280200
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs	OMIM:219250
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Tachypnea, Dyspnea	OMIM:267450
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Anterior open-bite malocclusion, Short nose	OMIM:617877
22Q11.2 Duplication Syndrome	Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul...	ORPHA:1727
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Large joint hypermobilty, Cleft soft palate, Kyphoscoliosis, Talipes equinovarus, Pes...	OMIM:614557
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca...	ORPHA:31826
Fraser Syndrome 2	Abdominal distention, Intestinal malrotation, Narrow mouth, Cutaneous syndactyly, Rectal atresia,...	OMIM:617666
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Congestive heart failure, Cerebral ischemia, High-output congestive heart failure, Tel...	ORPHA:137667
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor...	ORPHA:92050
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination	ORPHA:397612
Cowden Syndrome	Palmoplantar keratoderma, Furrowed tongue, Bone cyst, Hamartomatous polyposis, Brachydactyly, Col...	ORPHA:201
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Failure to thrive, Micrognathia, Microcephaly, Short nose	ORPHA:521426
Cystinosis, Nephropathic	Rachitic rosary, Rickets, Exocrine pancreatic insufficiency, Genu valgum, Hypophosphatemic ricket...	OMIM:219800
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Mitral regurgitation, Uterine prolapse, Congestive heart failure	OMIM:123700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Respiratory distress, Death in childhood, Exertional dyspnea, High palate	OMIM:220110
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
3Q29 Microdeletion Syndrome	Failure to thrive, Prominent nasal bridge, Microcephaly, Macrocephaly, Short nose	ORPHA:65286
Infantile Krabbe Disease	Gastroesophageal reflux, Vomiting, Shoulder girdle muscle weakness, Respiratory distress, Ankle c...	ORPHA:206436
X-Linked Intellectual Disability, Snyder Type	Bulbous nose, Anteverted nares, Prominent nasal bridge, Brachycephaly, Camptodactyly, Mandibular ...	ORPHA:3063
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Umbilical hernia, Atrophic scars, Short columella, Hiatus hernia, Distal arthr...	OMIM:601776
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasi...	OMIM:268400
Familial Nasal Acilia	Respiratory distress, Dyspnea, Chronic sinusitis	ORPHA:922
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Carious teeth, Natal tooth, Broad hallux, Clinodactyly, Downturned corners of mouth,...	OMIM:620186
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti...	OMIM:142623
Acquired Methemoglobinemia	Respiratory distress, Abdominal pain, Vomiting, Dyspnea	ORPHA:464453
Microphthalmia, Syndromic 6	Lambdoidal craniosynostosis, Bifid uvula, Toe syndactyly, Microglossia, Finger syndactyly, Retrog...	OMIM:607932
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteoporosis, Osteopenia, Abdominal distention	ORPHA:369
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge, Microcephaly	OMIM:609460
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, High palate	OMIM:619272
Cutis Laxa, Autosomal Recessive, Type Iic	Hypoplasia of the maxilla, Broad nasal tip, Broad columella, Narrow naris, Anteverted nares, Redu...	OMIM:617402
Developmental And Epileptic Encephalopathy 84	Microcephaly, Plagiocephaly	OMIM:618792
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Noonan Syndrome 3	Hypoplastic nasal bridge, Anteverted nares, Scaphocephaly, Sagittal craniosynostosis, Left unilam...	OMIM:609942
Okamoto Syndrome	Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Downturned corners of m...	ORPHA:2729
Osteopetrosis With Renal Tubular Acidosis	Plagiocephaly, Failure to thrive, Retrognathia, Persistence of primary teeth, Micrognathia, Thick...	ORPHA:2785
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Failure to thrive, Retrognathia, Malar flattening, Narrow nasal ridge, Microcephal...	OMIM:620083
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Broad nasal tip, Plagiocephaly, Anteverted nares, Micrognathia, Inguinal hernia	OMIM:618548
Degcags Syndrome	Toe syndactyly, Oral-pharyngeal dysphagia, Genu valgum, Micrognathia, Protruding tongue, Talipes ...	OMIM:619488
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue, Dysphagia, Feeding dif...	ORPHA:411511
Phelan-Mcdermid Syndrome	Broad-based gait, Hearing impairment, Impaired pain sensation, Bruxism, Protruding ear, Aggressiv...	OMIM:606232
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly	ORPHA:96190
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Tracheomalacia, Long philtrum, Ankyloglossia, Micrognathia, Vertebral seg...	ORPHA:2745
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Motor stereotypy, Ataxia	OMIM:619428
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Retinal hemorrhage	ORPHA:33226
Angelman Syndrome	Mandibular prognathia, Gastroesophageal reflux, Vomiting, Widely spaced teeth, Nasogastric tube f...	ORPHA:72
Stt3B-Cdg	Respiratory distress, Feeding difficulties	ORPHA:370924
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Gastroesophageal reflux, Rickets, Vomiting, Decreased liver function, Intestinal malr...	OMIM:613658
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Atrophic scars, Inguinal hernia, Craniosynostosis, Arthrogryposis multiplex co...	ORPHA:2953
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure	OMIM:619259
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Chronic diarrhea, Poor appetite	ORPHA:2221
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Diarrhea, Dyspnea	ORPHA:411703
Acrocephalopolydactylous Dysplasia	Oxycephaly, Craniosynostosis, Omphalocele, Short nose	OMIM:200995
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Intestinal mal...	OMIM:615237
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Gait disturbance...	OMIM:300352
Cardiac Diverticulum	Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Palpitations, Mitral stenosis, Pre...	ORPHA:1686
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossia, Malnut...	ORPHA:89842
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Nausea and vomiting, Anorexia	ORPHA:79242
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Micrognathia, Death in childhood, Prominence of the premaxilla, Arachnodactyly, Bow...	OMIM:614437
Alg12-Cdg	Posterior plagiocephaly, Failure to thrive, Prominent nasal bridge, Micrognathia, Chronic rhiniti...	ORPHA:79324
Cadds	Micrognathia, Short nose	ORPHA:369942
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity	OMIM:620242
Tsh-Secreting Pituitary Adenoma	Hypotension, Male hypogonadism, Congestive heart failure, Hypogonadism, Palpitations, Hypogonadot...	ORPHA:91347
Faundes-Banka Syndrome	Plagiocephaly, Failure to thrive, Underdeveloped nasal alae, Bulbous nose, Micrognathia, Primary ...	OMIM:619376
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Micrognathia, Malar flattening, Underdeveloped nasal alae	ORPHA:264200
3Mc Syndrome 2	Wide nasal bridge, Skull asymmetry, Depressed nasal tip, Prominent nasal bridge, Prominence of th...	OMIM:265050
Bcard Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion contracture, A...	OMIM:612394
Myotonic Dystrophy 1	Respiratory distress, Feeding difficulties in infancy, Dysphagia	OMIM:160900
Branchiooculofacial Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Short thumb, Cleft upper lip, Preaxial han...	OMIM:113620
Hardikar Syndrome	Hepatic failure, Vomiting, Unilateral cleft lip, Decreased liver function, Intestinal malrotation...	OMIM:301068
Malignant Peritoneal Mesothelioma	Ileus, Peritonitis, Abdominal distention, Dyspnea, Abdominal pain, Pedal edema	ORPHA:168811
Aspartylglucosaminuria	Depressed nasal bridge, Anteverted nares, Hernia, Microcephaly, Brachycephaly, Thickened calvaria...	OMIM:208400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:615895
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly, Secondary microcephaly, Micrognathia, Primary microcephaly, Arthrogryposis multipl...	ORPHA:496641
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Fat malabsorption, Rickets	OMIM:607765
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Broad nasal tip, Plagiocephaly, Wide nose, Asymmetry of the nares, Craniosynostosis, Midline nasa...	ORPHA:1521
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Gastroesophageal reflux, Elbow contracture, Knee contracture, Hypoventilation, Death in infancy, ...	OMIM:620275
Dietary Iron Overload Disease	Congestive heart failure	ORPHA:139507
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Absence of the sacrum, Submucous cleft hard palate	OMIM:617660
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Abnormal small intestine morphology,...	ORPHA:95427
Mercury Poisoning	Respiratory distress, Episodic abdominal pain, Episodic vomiting, Anorexia, Dyspnea, Nausea	ORPHA:330021
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Bicoronal synostosis, Agenesis of molar, Anterior plagiocephaly, Supernumerary tooth	OMIM:619718
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
Hunter-Macdonald Syndrome	Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Malar flattening, Brachycephaly...	OMIM:611962
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea	OMIM:263000
Molybdenum Cofactor Deficiency, Type B	Microcephaly, Frontal bossing, Short nose, Macrocephaly	OMIM:252160
Aorta Coarctation	Pulmonary arterial hypertension, Hypertension, Congestive heart failure	ORPHA:1457
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Thoracic hemivertebrae, Micrognathia, Butterfly vertebrae, Median cleft ...	OMIM:301043
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure	OMIM:619355
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Niemann-Pick Disease, Type C2	Death in childhood, Death in infancy, Dysphagia, Ataxia, Motor stereotypy	OMIM:607625
Glycogen Storage Disease Due To Acid Maltase Deficiency	Difficulty in tongue movements, Respiratory distress, Feeding difficulties in infancy, Orthopnea,...	ORPHA:365
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea, Vomiting, Anorexia	OMIM:237310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Gastroesophageal reflux, Abnormality of the temporomandibular joint, Open mouth, Protruding tongu...	ORPHA:258
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Anteriorly placed anus, Respiratory distress, Episodic tachypnea, Tachypnea, Feeding di...	ORPHA:26793
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Microcephaly, Short nose	ORPHA:261236
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Microcephaly, Broad nasal tip, Short nose	OMIM:614207
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Micrognathia, Malar flattening, Wide mouth, Abnormal parotid gla...	OMIM:154500
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Aggressive behavior, Motor...	OMIM:620494
Mucopolysaccharidosis, Type Ii	Congestive heart failure	OMIM:309900
Childhood Disintegrative Disorder	Motor stereotypy	ORPHA:168782
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Vomiting, Diarrhea, Feeding difficulties	OMIM:251000
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Depressed nasal bridge, Hypoplasia of the maxilla, Failure to thrive, Bilateral ...	OMIM:616462
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Micrognathia, Primary microcephaly, Macrocephaly, Flat occiput	ORPHA:300570
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Retrognathia, Open mouth, Submucous cleft hard palate, Talipes, Abn...	OMIM:192430
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Vomiting, Nausea, Abdominal distention	ORPHA:90003
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Abdominal pain, Glossitis,...	ORPHA:54028
Lathosterolosis	Anteverted nares, Micrognathia, Microcephaly, Prominent nasal tip, Short nose	OMIM:607330
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Diarrhea, Vomiting, Painless fractures due to injury, Respiratory distress, Auto...	OMIM:256810
Carney Complex, Type 1	Congestive heart failure	OMIM:160980
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Brachycephaly	ORPHA:500
Molybdenum Cofactor Deficiency, Type A	Microcephaly, Frontal bossing, Short nose, Macrocephaly	OMIM:252150
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Cranial asymmetry	OMIM:163200
Cryptogenic Organizing Pneumonia	Respiratory distress, Dyspnea, Anorexia	ORPHA:1302
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Motor stereotypy	ORPHA:79155
Isolated Arrhinia	Respiratory distress, Absent nasal septal cartilage, Hypoplasia of the nasal bone, Tessier cleft	ORPHA:1134
Wiedemann-Steiner Syndrome	Wide nasal bridge, Failure to thrive, Microcephaly, Dolichocephaly, Short nose	ORPHA:319182
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Inguinal...	OMIM:613458
Icf Syndrome	Malabsorption, Macroglossia, Micrognathia, Protruding tongue	ORPHA:2268
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Attention deficit hyperactivity ...	ORPHA:261197
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Micrognathia, Aplasia of the nasal bone, Acrania, Omphalocele, Macrocepha...	OMIM:618820
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Mildly reduced left ventricular eje...	ORPHA:99094
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Congestive heart failure	ORPHA:67
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Broad nasal tip, Failure to thrive, Anteverte...	ORPHA:363611
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Vomiting, Secretory diarrhea, Nasogastric tube feeding, Respiratory distress, Osteomyelitis, Ileu...	ORPHA:37042
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Long nose, Malar flattening, Short nose	OMIM:618590
Acute Lung Injury	Respiratory distress, Tachypnea, Dyspnea	ORPHA:178320
Cystinosis	Polydipsia, Gait disturbance, Motor stereotypy	ORPHA:213
Severe Acute Respiratory Syndrome	Respiratory distress, Dyspnea	ORPHA:140896
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Talipes equinovarus, Glossitis, Tracheoesophageal fistula, High palate,...	OMIM:277380
Pediatric Systemic Lupus Erythematosus	Diarrhea, Vomiting, Oral ulcer, Arthritis, Abdominal distention, Dyspnea, Abdominal pain	ORPHA:93552
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Protruding tongue, Constipation, Hyperventilation, Scoliosis, Wide mouth...	OMIM:614325
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Fat malabsorption, Rickets	ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Gastroesophageal reflux, Feeding difficulties, Poor suck	OMIM:615595
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Proximal muscle weakness in upper limbs, Distal upper limb muscle ...	ORPHA:466768
Thauvin-Robinet-Faivre Syndrome	Long foot, Long hallux, Pes planus, Large hands, Thick vermilion border, Macroglossia, Pedal edem...	OMIM:617107
Alpha-Thalassemia	Congestive heart failure	ORPHA:846
Weiss-Kruszka Syndrome	Anteverted nares, Short nose	OMIM:618619
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Depressed nasal bridge, Bulbous nose, Microcephaly, Brachycephaly, Wide nose	OMIM:610442
Common Variable Immunodeficiency	Failure to thrive in infancy, Brachycephaly	ORPHA:1572
Distal Deletion 19P	Hypoplasia of the maxilla, Keloids, Vaginal hernia, Umbilical hernia	ORPHA:96129
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Diarrhea, Nausea, Constipation, Episodic vomiting, Abdominal distentio...	ORPHA:100924
Linear Nevus Sebaceus Syndrome	Prominent occiput, Plagiocephaly, Biparietal narrowing, Frontal bossing	ORPHA:2612
Donohue Syndrome	Thick lower lip vermilion, Long foot, Gingival overgrowth, Large hands, Abdominal distention, Wid...	OMIM:246200
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Megalocornea-Intellectual Disability Syndrome	Protruding ear, Motor stereotypy, Ataxia, Sensorineural hearing impairment	ORPHA:2479
Thyroid Lymphoma	Respiratory distress, Dyspnea, Dysphagia	ORPHA:97285
Leigh Syndrome	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:506
Cranioectodermal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Plagiocephaly, Retrognathia, Micrognathia, Inguinal he...	OMIM:613610
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis	OMIM:606763
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Diffi...	ORPHA:99956
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Prominent nasal tip, Progressive flexion contractures, Brachyturricephaly, Short nose	ORPHA:522077
Transketolase Deficiency	Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive...	ORPHA:488618
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop...	ORPHA:920
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Failure to thrive, Short nose, Macrocephaly	ORPHA:3339
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose	ORPHA:2983
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Tracheoesophageal fistula, Gingival overgrowth	ORPHA:1839
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Intracranial hemorrhage, H...	ORPHA:363618
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial rupture, Congestive heart failure	ORPHA:1900
Holoprosencephaly 9	Depressed nasal bridge, Choanal atresia, Broad nasal tip, Hypoplasia of the premaxilla, Hypoplasi...	OMIM:610829
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Anteverted...	OMIM:259050
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Congestive heart failure	ORPHA:428
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Tachypnea, Dyspnea	ORPHA:36238
Beta-Thalassemia Intermedia	Hypogonadism, Pulmonary arterial hypertension, High-output congestive heart failure	ORPHA:231222
1P36 Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Failure to thrive, Camptodactyl...	ORPHA:1606
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Tongue telangiectasia, Congestive hea...	ORPHA:774
Sepsis In Premature Infants	Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointestinal trac...	ORPHA:90051
Nicolaides-Baraitser Syndrome	Wide nasal base, Failure to thrive, Umbilical hernia, Bulbous nose, Narrow nasal bridge, Antevert...	OMIM:601358
Peters Plus Syndrome	Depressed nasal bridge, Umbilical hernia, Anteverted nares, Short columella, Micrognathia, Inguin...	ORPHA:709
Joubert Syndrome 6	Motor stereotypy, Ataxia	OMIM:610688
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:579
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper...	ORPHA:464
Lujo Hemorrhagic Fever	Vomiting, Diarrhea, Respiratory distress, Stiff neck, Nausea, Abdominal cramps, Fulminant hepatit...	ORPHA:319213
Aceruloplasminemia	Congestive heart failure	ORPHA:48818
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring, Abnormal thorax morphology	ORPHA:70587
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Tachypnea	ORPHA:264675
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Delayed eruption of primary teeth, Abs...	OMIM:149730
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Congestive heart failure	ORPHA:35687
Seckel Syndrome 10	Hypertension, Congestive heart failure	OMIM:617253
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Supernumerary tooth	ORPHA:3474
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Talipes equinovarus, Wrist flexion contracture, C...	OMIM:618733
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor...	ORPHA:251510
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Chronic Pneumonitis Of Infancy	Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions	ORPHA:91359
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia	ORPHA:572013
Aicardi Syndrome	Plagiocephaly, Prominence of the premaxilla, Hiatus hernia, Microcephaly, Multiple lipomas	ORPHA:50
Jacobsen Syndrome	Wide nasal bridge, Broad columella, Trigonocephaly, Anteverted nares, Inguinal hernia, Macrocepha...	ORPHA:2308
Alstrom Syndrome	Dilated cardiomyopathy, Hypertension, Hypergonadotropic hypogonadism, Congestive heart failure	OMIM:203800
Hypotonia, Ataxia, And Delayed Development Syndrome	Low-set ears, Pain insensitivity, Broad-based gait, Gait ataxia, Dysmetria, Truncal ataxia, Motor...	OMIM:617330
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Motor stereotypy	ORPHA:529965
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Malar flattening, Submucous cleft hard palate, Bilateral cleft ...	OMIM:157170
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Acute hepatic failure, Malabsorption, Nausea a...	ORPHA:537
Bilateral Perisylvian Polymicrogyria	Gastroesophageal reflux, Pseudobulbar paralysis, Micrognathia, Apnea, Protruding tongue, Distal a...	ORPHA:98889
Chops Syndrome	Microcephaly, Obesity, Anteverted nares, Short nose	OMIM:616368
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Respiratory distress, Abnormal rectum morphology, Abnormal dental enamel morphology...	ORPHA:2556
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Colitis, Steatorrhea, Osteoporosis	ORPHA:309031
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy, Dysphagia, Bowel incontinence	ORPHA:276198
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L...	ORPHA:308552
Vici Syndrome	Dilated cardiomyopathy, Penile hypospadias, Cardiomyopathy, Congestive heart failure	OMIM:242840
Neuroblastoma	Respiratory distress, Chronic diarrhea, Abdominal distention, Pathologic fracture	ORPHA:635
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub...	OMIM:606721
Duane Retraction Syndrome	Wide nasal bridge, Plagiocephaly, Anteverted nares, Micrognathia, Microcephaly, Camptodactyly	ORPHA:233
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, Inability to walk, Sensorineural hearing impairment	ORPHA:457351
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Abdominal distention, Steatorrhea, Esophageal...	ORPHA:75233
Inhalational Anthrax	Respiratory distress, Vomiting, Dyspnea	ORPHA:247257
Amyotrophic Lateral Sclerosis	Xerostomia, Nausea and vomiting, Dysphagia, Dyspnea, Tongue atrophy	ORPHA:803
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia	OMIM:615802
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Death in childhood, Death in infancy, Arthritis, Abdominal distention, Septic arth...	OMIM:619423
Pmm2-Cdg	Platyspondyly, Osteopenia, Mandibular prognathia, Vomiting, Retrognathia, Long philtrum, Respirat...	ORPHA:79318
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Genu valgum, Talipes equinovarus, Abdominal pain, High palate, High, narrow palate...	OMIM:619475
6Q Terminal Deletion Syndrome	Plagiocephaly, Failure to thrive, Obesity, Micrognathia, Macrocephaly, Dolichocephaly	ORPHA:75857
Congenital Alveolar Capillary Dysplasia	Abnormal vertebral morphology, Volvulus, Duodenal stenosis, Intestinal malrotation, Respiratory d...	ORPHA:210122
Witteveen-Kolk Syndrome	Wide nasal bridge, Flared nostrils, Depressed nasal bridge, Microretrognathia, Underdeveloped nas...	OMIM:613406
Trisomy 8P	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	ORPHA:264450
Sponastrime Dysplasia	Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Delayed eruption of permanent te...	ORPHA:93357
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Pulmonary arterial hypertension, Left ventricular outflow tract obstruc...	ORPHA:99050
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
2Q37 Microdeletion Syndrome	Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear...	ORPHA:1001
Bazex-Dupre-Christol Syndrome	Furrowed tongue, Joint hypermobility	OMIM:301845
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Poor suck, Episodic respiratory distress	ORPHA:141083
Acrodermatitis Enteropathica	Furrowed tongue, Malabsorption, Chronic diarrhea, Anorexia, Abnormality of the tongue, Glossitis,...	ORPHA:37
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant...	OMIM:619575
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Apnea, Peritonitis, Abdominal rigidity, Abdominal di...	ORPHA:391673
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Triosephosphate Isomerase Deficiency	Congestive heart failure	OMIM:615512
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Plagiocephaly, Failure to thrive, Anteverted nares, Micrognathia, Microcephaly...	OMIM:620455
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia	OMIM:106260
Cutis Laxa, Autosomal Recessive, Type Iid	Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Congestive heart failure, Micropenis, Righ...	OMIM:617403
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Tachypnea	OMIM:610978
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Anteverted nares, Prominent occiput, Macrocephaly at birth, Short nose, Flexio...	ORPHA:280633
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Obesity, Anteverted nares, Short...	OMIM:619426
Malignant Hyperthermia Of Anesthesia	Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou...	ORPHA:423
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Thin upper lip vermilion, Exertional dyspnea, Abdominal disten...	OMIM:620233
Pilarowski-Bjornsson Syndrome	Motor stereotypy	OMIM:617682
Ogden Syndrome	Wide nasal bridge, Flared nostrils, Bifid nasal tip, Depressed nasal bridge, Microretrognathia, U...	OMIM:300855
Cocaine Intoxication	Vomiting, Respiratory distress, Gastrointestinal infarctions, Colitis, Tachypnea, Abdominal pain,...	ORPHA:90068
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Hypoplasia of the maxilla, Broad nasal tip, Carious teeth, Depressed nasal tip, ...	OMIM:129900
Ovarian Fibroma	Abdominal pain, Peritonitis, Odontogenic keratocysts of the jaw, Abdominal distention	ORPHA:314473
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Failure to thrive, Slender build, Narrow nasal bridge, Prominent nasal bridge, Pro...	ORPHA:466791
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abdominal distention, Dyspnea, Macrogloss...	ORPHA:85443
Listeriosis	Diarrhea, Vomiting, Stiff neck, Osteomyelitis, Respiratory distress, Nausea, Peritonitis, Septic ...	ORPHA:533
Plague	Inflammation of the large intestine, Diarrhea, Vomiting, Chapped lip, Respiratory distress, Ileit...	ORPHA:707
Psoriasis 14, Pustular	Furrowed tongue, Oligoarthritis, Polyarticular arthritis, Geographic tongue	OMIM:614204
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Vomiting, Hypopnea, Gastroesophageal reflux, Respiratory distress, Apnea, Death in childhood, Dea...	OMIM:618426
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Smooth philtrum, Glossitis, Stomatitis, Feeding difficulties	ORPHA:79282
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy, Dysphagia	OMIM:614153
Rodrigues Blindness	Tooth malposition, Nasal flaring	OMIM:268320
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Smooth tongue, Oral mucosal blisters, Gastrostomy tube feeding in infan...	ORPHA:79396
Pitt-Hopkins Syndrome	Self-injurious behavior, Cupped ear, Gait ataxia, Thickened helices, Motor stereotypy	OMIM:610954
Congenital Enterovirus Infection	Respiratory distress, Hepatic failure	ORPHA:292
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Nausea and vomiting, Anorexia, Glossitis, Cheilitis	ORPHA:90045
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, Depressed nasal bridge, Small for gestational age, Short nose	OMIM:300661
Scimitar Syndrome	Congestive heart failure, Pulmonary arterial hypertension, Left-to-right shunt, Heart block	ORPHA:185
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	ORPHA:73224
Fanconi-Bickel Syndrome	Rickets, Osteomalacia, Malabsorption, Abdominal distention, Poor appetite	OMIM:227810
Giant Cell Arteritis	Hepatic failure, Gastrointestinal infarctions, Joint stiffness, Arthritis, Anorexia, Abdominal pa...	ORPHA:397
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Anteverted nares, Inguinal hernia, Microcepha...	OMIM:620568
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Motor stereotypy	ORPHA:98784
Dend Syndrome	Anteverted nares, Short nose	ORPHA:79134
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Choanal atresia, Retrognathia, Narrow nose, Anteverted nares, Contracture of the proximal interph...	OMIM:301044
Geleophysic Dysplasia 1	Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension...	OMIM:231050
Thyroid Hemiagenesis	Macroglossia, Constipation, Abdominal distention	ORPHA:95719
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention	ORPHA:103910
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Talipes valgus, Pes cavus, Submucous cleft hard palate, Ankle clonus, Feeding difficulties in inf...	OMIM:618891
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue, Constipation, Tube feeding, Feeding difficulties	OMIM:620352
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist...	OMIM:270420
Autosomal Recessive Cutis Laxa Type 1	Abnormal cardiac ventricular function, Supravalvular aortic stenosis, Congestive heart failure	ORPHA:90349
Eisenmenger Syndrome	Respiratory distress, Exertional dyspnea, Abdominal distention, Clubbing, Pedal edema	ORPHA:97214
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Pes cavus, Knee flexion contracture...	OMIM:148210
Hartnup Disease	Gingivitis, Glossitis, Malabsorption	ORPHA:2116
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Feeding difficulties in infancy, Vomiting	OMIM:251110
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropathy, L...	OMIM:203500
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Low-set ears, Broad-based gait, Short ear, Gait ataxia, Dysmetria, Protruding ear, Aggressive beh...	OMIM:614756
Wilson Disease	Hepatic failure, Chondrocalcinosis, Vomiting, Osteomalacia, Acute hepatic failure, Joint hypermob...	OMIM:277900
Peroxisome Biogenesis Disorder 4B	Short nose, Macrocephaly	OMIM:614863
Immunodeficiency 82 With Systemic Inflammation	Intractable diarrhea, Diarrhea, Anoperineal fistula, Vomiting, Osteomalacia, Osteomyelitis, Villo...	OMIM:619381
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Feeding difficulties in infancy, Vomiting	OMIM:251100
Simpson-Golabi-Behmel Syndrome	Wide nasal bridge, Umbilical hernia, Camptodactyly of finger, Anteverted nares, Inguinal hernia, ...	ORPHA:373
Liver Failure, Infantile, Transient	Vomiting, Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal dis...	OMIM:613070
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Unde...	OMIM:618332
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Dysphagia, Abnormal form of the vertebral bodies	ORPHA:93399
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Arterial rupture, Gastrointestinal hemorrhage, Congestive heart failure	OMIM:225400
Brain-Lung-Thyroid Syndrome	Respiratory distress, Hypodontia	ORPHA:209905
Cryptococcosis	Vomiting, Respiratory distress, Osteomyelitis, Peritonitis, Dyspnea, Osteolysis	ORPHA:1546
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Carious teeth, Foot joint contracture, Gastroesophageal reflux, Anal fissure, Malnutr...	ORPHA:79408
Developmental And Epileptic Encephalopathy 2	Inability to walk, Motor stereotypy	OMIM:300672
Methylmalonic Acidemia With Homocystinuria Type Cblf	Glossitis, Feeding difficulties, Stomatitis, Cleft palate	ORPHA:79284
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Gastroesophageal reflux, Vomiting, Ankyloglossia, Micrognathia, P...	OMIM:619525
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Palpitations, Angina pectoris, Arrhythmia, Low-output congestive heart failure	ORPHA:565612
Carney Complex	Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, Congestive heart failure, Abnor...	ORPHA:1359
Dominant Beta-Thalassemia	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231226
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Microcephaly, Short nose, Retrognathia	OMIM:301030
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Micrognathia, Retrognathia, Omphalocele	OMIM:265380
Abetalipoproteinemia	Congestive heart failure	ORPHA:14
Aicardi-Goutières Syndrome	Plagiocephaly, Multiple joint contractures, Microcephaly, Convex nasal ridge, Panniculitis, Lipoa...	ORPHA:51
Deeah Syndrome	Prominent nasal tip, Retrognathia, Short nose, Decreased body weight	OMIM:619004
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Microcephaly, Plagiocephaly, Small for gestational age	OMIM:613355
Desmoplastic Small Round Cell Tumor	Abdominal pain, Ileus, Nausea and vomiting, Abdominal distention	ORPHA:83469
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Osteomalacia	OMIM:600740
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia, Scoliosis, Chronic constipation	OMIM:619352
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp...	ORPHA:158668
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Cervical ribs, Respiratory distress, Intestinal malrotation, Exocrine pancreatic insufficiency, I...	ORPHA:2255
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Pectus carinatum, Vomiting, Delayed erup...	OMIM:235730
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Cachexia, Spontaneous, recurrent epistaxis	ORPHA:2072
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure	OMIM:617156
Distal Renal Tubular Acidosis	Diarrhea, Rickets, Vomiting, Osteomalacia, Increased susceptibility to fractures, Constipation, R...	ORPHA:18
17Q11 Microdeletion Syndrome	Osteopenia, Beaking of vertebral bodies T12-L3, Long foot, Abnormality of the sphenoid sinus, Ost...	ORPHA:97685
Primary Sclerosing Cholangitis	Spider hemangioma, Portal hypertension, Palmar telangiectasia, Congestive heart failure	ORPHA:171
Letterer-Siwe Disease	Dyspnea, Stomatitis, Abdominal distention	OMIM:246400
Imerslund-Gräsbeck Syndrome	Vomiting, Angular cheilitis, Constipation, Glossitis, Poor appetite	ORPHA:35858
Kawasaki Disease	Vasculitis, Congestive heart failure, Arrhythmia, Myocarditis, Pericarditis	ORPHA:2331
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Low-set ears, Hair-pulling, Protruding ear, Dysphagia, Hyperactivity, Motor stereotypy	ORPHA:447997
Trichorhinophalangeal Syndrome, Type Ii	Wide nasal bridge, Recurrent upper respiratory tract infections, Plagiocephaly, Carious teeth, Sk...	OMIM:150230
Congenital Tracheomalacia	Intercostal retractions, Gastroesophageal reflux, Tracheomalacia, Apnea, Tracheoesophageal fistul...	ORPHA:95430
Peritoneal Cystic Mesothelioma	Abdominal pain, Peritonitis, Constipation, Abdominal distention	ORPHA:168816
Multiple Endocrine Neoplasia Type 2	Diarrhea, Abdominal distention, Abnormal tongue morphology, Ganglioneuromatosis, Kyphoscoliosis, ...	ORPHA:653
Digeorge Syndrome	High, narrow palate, Bifid uvula, Gastroesophageal reflux, Micrognathia, Intervertebral disk dege...	OMIM:188400
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Anteverted nares, Plagiocephaly, Inguinal hernia	ORPHA:457284
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Williams Syndrome	Precocious puberty, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebral ischemia, Sup...	ORPHA:904
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Abdominal distention, Pyloric stenosis	OMIM:256300
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Abdominal distention, Episodic abdominal pain, Anorexia, Dyspnea, Nausea	ORPHA:100085
Thyroid Hypoplasia	Macroglossia, Constipation, Abdominal distention	ORPHA:95720
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Broad nasal tip, Plagiocephaly, Dolichocephaly, Frontal bossing	OMIM:619480
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure	ORPHA:98908
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Vomiting, Respiratory distress, Nausea, Hematemesis, Melena, Dyspnea, Abdominal pain	ORPHA:340
Lymphatic Malformation 7	Respiratory distress, Abdominal distention	OMIM:617300
Microgastria-Limb Reduction Defect Syndrome	Hiatus hernia, Plagiocephaly, Frontal bossing, Failure to thrive	ORPHA:2538
Junctional Epidermolysis Bullosa With Pyloric Atresia	Pterygium, Congenital pyloric atresia, Nausea and vomiting, Oral mucosal blisters, Enamel hypopla...	ORPHA:79403
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Renovascular hypertension, Congestive heart failure	ORPHA:391487
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Congestive heart failure	OMIM:154700
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Aicardi Syndrome	Anteverted nares, Prominence of the premaxilla, Hiatus hernia, Microcephaly, Lipoma	OMIM:304050
Oculopharyngodistal Myopathy 1	Respiratory distress, High palate, Dysphagia	OMIM:164310
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention, Dyspnea, Myelo...	ORPHA:160
Q Fever	Respiratory distress, Osteomyelitis, Anorexia	ORPHA:781
Chylomicron Retention Disease	Diarrhea, Vomiting, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Carious teeth, Narrow nasal bridge, Persistence of pr...	ORPHA:2044
Beta-Thalassemia Major	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231214
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteochondrosis, Bone cyst, Osteolysis	ORPHA:2396
Peters-Plus Syndrome	Hypoplasia of the maxilla, Umbilical hernia, Micrognathia, Decreased body weight, Microcephaly, C...	OMIM:261540
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Toriello-Carey Syndrome	Microcephaly, Micrognathia, Short nose	ORPHA:3338
Currarino Syndrome	Anal stenosis, Absence of the sacrum, Bifid sacrum, Chronic constipation, Anal fistula, Perianal ...	OMIM:176450
Dyskeratosis Congenita	Taurodontia, Hypoplasia of the maxilla, Carious teeth	ORPHA:1775
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Mitochondrial Dna-Associated Leigh Syndrome	Hepatic failure, Apnea, Episodic respiratory distress, Episodic vomiting, Dyspnea, Hyperventilati...	ORPHA:255210
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Depressed nasal tip, Malar flattening,...	OMIM:604292
Acute Intermittent Porphyria	Proximal muscle weakness in upper limbs, Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomi...	ORPHA:79276
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Peripheral Primitive Neuroectodermal Tumor	Abdominal distention, Abnormal thoracic spine morphology, Nausea and vomiting, Episodic abdominal...	ORPHA:370348
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Recurrent otitis media, Stereotypical body rocking, Gait ataxia, Abnormal Eusta...	ORPHA:513456
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Melena, Chronic diarrhea, Erythematous oral mucosa	OMIM:158310
Gitelman Syndrome	Diarrhea, Chondrocalcinosis, Respiratory distress, Gout, Nausea and vomiting, Constipation, Abdom...	ORPHA:358
Microsporidiosis	Vomiting, Osteomyelitis, Intermittent diarrhea, Sinusitis, Peritonitis, Nausea, Anorexia, Abdomin...	ORPHA:2552
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Broad thumb, Gastroesophageal reflux, Knee dislocation, Polydactyly, Broad first meta...	OMIM:619534
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Low-set ears, Overfolded helix, Motor stereotypy, Difficulty walking	OMIM:618653
Dyrk1A-Related Intellectual Disability Syndrome	Protruding ear, Gait disturbance, Hyperactivity, Motor stereotypy, Macrotia	ORPHA:464306
Gonadoblastoma	Abdominal pain, Abdominal distention	ORPHA:206484
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Diarrhea, Xerostomia, Abdominal distention, Oral synechia, Oral-pharyngeal dysphagia, Respiratory...	ORPHA:95455
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Mitral regurgitation, Congestive heart failure	ORPHA:90348
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Protruding ear, Attention deficit hyperactivity disorder, Gait disturbance, Motor stereotypy	ORPHA:464311
Ovarian Fibrothecoma	Abdominal pain, Peritonitis, Abdominal distention	ORPHA:314478
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Abdominal distention	OMIM:618528
Mucopolysaccharidosis Type 2	Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Oppositional defiant disor...	ORPHA:580
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Respiratory distress, Abnormal stomach morphology, Trache...	ORPHA:141127
X-Linked Acrogigantism	Long foot, Diastema, Large hands, Abdominal distention	ORPHA:300373
Kasabach-Merritt Phenomenon	Respiratory distress, Abdominal pain, Hypopnea, Abdominal distention	ORPHA:2330
X-Linked Dystonia-Parkinsonism	Protruding tongue, Impaired oropharyngeal swallow response	ORPHA:53351
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Decreased liver function, Malnutrition, Feeding difficulties...	ORPHA:275761
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal distention, Recurrent infection of the gastrointestinal tract, Nausea, Anorexia, Abdomi...	ORPHA:51890
Colonic Atresia	Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis	ORPHA:1198
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Decreas...	OMIM:182250
Nocardiosis	Vomiting, Respiratory distress, Osteomyelitis, Peritonitis, Anorexia, Dyspnea	ORPHA:31204
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Wide nasal bridge, Broad nasal tip, Carious teeth, Bulbous nose, Anteverted nares, Microcephaly, ...	OMIM:619522
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Motor stereotypy, Posteriorly rotated ears, Aggressive behavior	OMIM:301066
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral sensorineur...	ORPHA:468631
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Bounding pulse	ORPHA:90307
Liver Disease, Severe Congenital	Depressed nasal bridge, Plagiocephaly, Failure to thrive, Umbilical hernia, Macrocephaly at birth...	OMIM:619991
Agel Amyloidosis	Tongue atrophy, Xerostomia	ORPHA:85448
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Pallister-Killian Syndrome	Wide nasal bridge, Depressed nasal bridge, Camptodactyly of 2nd-5th fingers, Delayed eruption of ...	OMIM:601803
Infantile Nephropathic Cystinosis	Vomiting, Rickets, Constipation	ORPHA:411629
Alström Syndrome	Hepatic failure, Gastroesophageal reflux, Short toe, Short finger, Respiratory distress, Tooth ag...	ORPHA:64
Hereditary Fructose Intolerance	Vomiting, Diarrhea, Nausea, Chronic hepatic failure, Constipation, Abdominal distention, Abdomina...	ORPHA:469
Primary Biliary Cholangitis	Hepatic failure, Osteoporosis, Abdominal distention, Steatorrhea, Celiac disease, Gastrointestina...	ORPHA:186
Epidermolysis Bullosa Simplex With Pyloric Atresia	Vomiting, Congenital pyloric atresia, Oral mucosal blisters, Abdominal distention, Flexion contra...	ORPHA:158684
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Chondrocalcinosis, Osteomalacia, Nausea and vomiting, Episodic abdominal pain	ORPHA:405
Cirrhosis, Familial	Fulminant hepatitis, Esophageal varix, Abdominal distention	OMIM:215600
Polyembryoma	Abdominal pain, Abdominal distention	ORPHA:180229
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Intestinal malrotation, Nausea and vomiting, Death in infancy, Abdominal distention, ...	ORPHA:2241
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me...	ORPHA:353281
Hereditary Spherocytosis	Abdominal pain, Gout, Abdominal distention	ORPHA:822
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon, Abdominal distention	OMIM:619362
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla	OMIM:180500
Williams-Beuren Syndrome	Depressed nasal bridge, Broad nasal tip, Dental malocclusion, Umbilical hernia, Failure to thrive...	OMIM:194050
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Palmar hyperkeratosis, ...	OMIM:615726
Ovarian Hyperstimulation Syndrome	Abdominal pain, Nausea and vomiting, Nausea, Abdominal distention	ORPHA:64739
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Narrow chest, Narrow mouth	OMIM:614748
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention	ORPHA:309256
Nmda Receptor Encephalitis	Chorea, Motor stereotypy, Choreoathetosis, Agitation, Hypersexuality	ORPHA:217253
Mirizzi Syndrome	Vomiting, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Nausea	ORPHA:521219
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Motor stereotypy, Hearing impairment	ORPHA:508498
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Flexion contracture, Plagiocephaly, Hip contracture	ORPHA:3042
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Abdominal distention	ORPHA:309271
Thyroid Ectopia	Macroglossia, Constipation, Dysphagia, Abdominal distention	ORPHA:95712
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Unsteady gait, Motor stereotypy	OMIM:616682
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention	ORPHA:309263
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav...	ORPHA:353277
Norrie Disease	Self-injurious behavior, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ...	ORPHA:649
Leprechaunism	Megarectum, Abdominal distention, Long foot, Large hands, Thick vermilion border, Rectal prolapse	ORPHA:508
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Abdominal distention	OMIM:214700
Tuberous Sclerosis Complex	Respiratory distress	ORPHA:805
Choreoacanthocytosis	Peroneal muscle atrophy, Temporomandibular joint crepitus, Equinovarus deformity, Absent Achilles...	ORPHA:2388
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Feeding difficulties in infancy, Constipation, Abdominal distention	OMIM:218700
Combined Immunodeficiency-Enteropathy Spectrum	Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Intestinal atresia, Abdominal dis...	ORPHA:436252
Leptospirosis	Diarrhea, Respiratory distress, Nausea and vomiting, Anorexia, Abdominal pain	ORPHA:509
Gallbladder Neuroendocrine Tumor	Anorexia, Episodic abdominal pain, Nausea, Abdominal distention	ORPHA:100086
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Microcolon, Ileal atresia, Abdominal distention	OMIM:619351
Pancreatoblastoma	Abdominal pain, Vomiting, Diarrhea, Abdominal distention	ORPHA:677
Congenital Total Pulmonary Venous Return Anomaly	Paroxysmal dyspnea, Respiratory distress, Increased anterioposterior diameter of thorax, Apneic e...	ORPHA:99125
Penile Agenesis	Depressed nasal bridge, Short nose	ORPHA:49
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Maxillozygomatic hypoplasia, Micrognathia, Malar flattening	OMIM:164210
Atresia Of Urethra	Abdominal distention	ORPHA:105
Multicystic Dysplastic Kidney	Abdominal distention	ORPHA:1851

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 Sox9

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 Sox9.

No publications found that use IMPC mice or data for Sox9.

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MGI Allele	Allele Type	Produced
Sox9^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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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