Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Npr2 MGI:97372

Gene Summary

Name:

natriuretic peptide receptor 2

Synonyms:

cn, guanylyl cyclase-B, pwe

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal tail morphology	Npr2^em1(IMPC)H	HET	Early adult	1.51×10^-08
preweaning lethality, incomplete penetrance	Npr2^em1(IMPC)H	HOM	Early adult	0.00
abnormal hindlimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
abnormal tail length	Npr2^em1(IMPC)H	HOM	Early adult	1.31×10^-10
limb grasping	Npr2^em1(IMPC)H	HOM	Early adult	1.47×10^-09
tremors	Npr2^em1(IMPC)H	HOM	Early adult	9.76×10^-09
increased freezing behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.73×10^-09
abnormal tail morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
decreased circulating alkaline phosphatase level	Npr2^em1(IMPC)H	HOM	Early adult	3.74×10^-07
abnormal snout morphology	Npr2^em1(IMPC)H	HET	Early adult	2.01×10^-05
abnormal forelimb morphology	Npr2^em1(IMPC)H	HOM	Early adult	3.97×10^-13
abnormal gait	Npr2^em1(IMPC)H	HOM	Early adult	9.20×10^-07
abnormal locomotor behavior	Npr2^em1(IMPC)H	HOM	Early adult	1.03×10^-10
increased grip strength	Npr2^em1(IMPC)H	HET	Early adult	7.41×10^-06
abnormal head morphology	Npr2^em1(IMPC)H	HOM	Early adult	5.95×10^-12
abnormal snout morphology	Npr2^em1(IMPC)H	HOM	Early adult	6.34×10^-07
trunk curl	Npr2^em1(IMPC)H	HOM	Early adult	1.18×10^-09
abnormal head size	Npr2^em1(IMPC)H	HOM	Early adult	3.87×10^-08
impaired cued conditioning behavior	Npr2^em1(IMPC)H	HOM	Early adult	3.26×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

MicroCT E18.5

Embryo reconstruction

4 Images

View images

Human diseases caused by Npr2 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 Npr2 (4 diseases)
Human diseases predicted to be associated with Npr2 (2567 diseases)

The table below shows human diseases associated to Npr2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperl...	ORPHA:40
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Short Stature With Nonspecific Skeletal Abnormalities	Proportionate short stature	OMIM:616255

The table below shows human diseases predicted to be associated to Npr2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Schneckenbecken Dysplasia	Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat acetabular ...	OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Malar flattening, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Sho...	OMIM:118651
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve...	OMIM:108720
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Omodysplasia 2	Tented upper lip vermilion, Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyl...	OMIM:164745
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr...	ORPHA:1856
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep...	ORPHA:2831
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:210720
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Depressed nasal bridge, Micrognath...	ORPHA:93328
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abdominal dis...	ORPHA:85166
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Rhizomelia, Sh...	OMIM:602471
3M Syndrome	Congenital hip dislocation, Micromelia, Increased vertebral height, Enlarged thorax, Clinodactyly...	ORPHA:2616
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Smith-Mccort Dysplasia 1	Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac crest serration...	OMIM:607326
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Irregular vertebral e...	OMIM:271700
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Microm...	ORPHA:440354
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Thanatophoric Dysplasia, Type I	Femoral bowing, Narrow chest, Neonatal death, Cloverleaf skull, Small abnormally formed scapulae,...	OMIM:187600
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Micr...	OMIM:616716
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Proximal placement of thumb, Coxa vara, Pectus carinatum, Hypoplastic iliac w...	OMIM:613330
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Anteverted nares, Depressed nasal bridge, Rhizomelia, Micrognathia, Mi...	OMIM:222765
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia...	OMIM:187601
X-Linked Intellectual Disability, Cabezas Type	Prominent nose, High palate, Biparietal narrowing, Short philtrum, Short palm, Clinodactyly of th...	ORPHA:85293
Brachydactyly Type A1	Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys...	ORPHA:93388
Paramyotonia Congenita Of Von Eulenburg	Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t...	ORPHA:684
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Diffi...	OMIM:619565
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ...	OMIM:227270
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Short stature, Abnormal dental morphology, Microcephaly, Open bite, Dental...	ORPHA:3079
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Phocomelia, Genu va...	OMIM:171480
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Severe short stature, Abnormal dental enamel morphology, Promine...	ORPHA:1005
Three M Syndrome 2	Pectus carinatum, High palate, Intrauterine growth retardation, Long philtrum, Scapular winging, ...	OMIM:612921
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Convex nasal ridge, Short stature, Micrognathia, Carious teeth, Promine...	OMIM:613684
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ...	OMIM:608940
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Flat occiput, Thin upper lip vermilion, Micrognathia, Everted ...	ORPHA:357175
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Short femoral neck, Corner fract...	OMIM:184255
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Flat occiput, Thin upper lip vermilion, Micrognathia, Downturn...	OMIM:615162
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Brachycephaly, Abnormal form of the vertebral bodies, Pectus carinatum, Do...	ORPHA:1327
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ...	OMIM:249600
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Depress...	ORPHA:61
Pelviscapular Dysplasia	Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hy...	ORPHA:93333
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Prominent superficial...	ORPHA:75508
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperl...	ORPHA:40
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Aplasia/Hypop...	ORPHA:2256
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Narrow chest, Short phalanx of finger, Hypoplastic c...	ORPHA:56304
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Hyperlordosis, Narrow mo...	ORPHA:1323
Acrocephalopolydactyly	Genu recurvatum, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Protuber...	ORPHA:221054
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h...	ORPHA:2019
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Dolichocephaly, Hip dislocatio...	OMIM:618395
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, P...	OMIM:210600
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:600920
Cleidorhizomelic Syndrome	Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl...	ORPHA:1453
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Pr...	OMIM:234250
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Progressive alveolar ridge hypertropy, Hepatomega...	OMIM:252500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, H...	OMIM:614091
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Tetraploidy	Microcephaly, Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the thymus, Sho...	ORPHA:3305
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Filippi Syndrome	Ambiguous genitalia, 2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation, Cutaneous ...	OMIM:272440
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypogonadism	ORPHA:85173
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, Radial bowin...	OMIM:151210
Hypochondroplasia	Frontal bossing, Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed ...	OMIM:146000
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Hemivertebrae, Orofacial cleft, Pectus carinatum, Hig...	ORPHA:958
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Beaded ribs, Brachycephaly, Decreased skull ossification, Anteverted na...	OMIM:616897
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Abnormality of the dentition, High pa...	ORPHA:217340
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Micrognathia, Microcephaly, Cryptorchidis...	ORPHA:99812
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Achondrogenesis Type 1A	Frontal bossing, Multiple rib fractures, Severe short stature, Anteverted nares, Micromelia, Micr...	ORPHA:93299
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short ...	ORPHA:3258
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Relative macrocephaly, Anteverted nares, Tapered finger, Long fingers, Den...	OMIM:618292
Muenke Syndrome	Midface retrusion, Broad hallux, Capitate-hamate fusion, Dental malocclusion, Brachycephaly, Cone...	OMIM:602849
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A...	ORPHA:2491
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Achondroplasia	Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Choanal stenosis, Neonatal shor...	OMIM:100800
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
8P23.1 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Enlarged thorax, High palate, Biparietal narrowing, Br...	ORPHA:251071
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Lumbar hyperlordosis, Depressed nasal bridge, Flat a...	OMIM:256050
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Widely spaced teeth, Narrow chest, Short phalanx of finger, Short metacarpal, D...	OMIM:617102
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ri...	OMIM:614524
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Wide nose, Short femur, Sandal gap, Small for gestational age, Rhizomelia, Thin up...	OMIM:607143
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Underdeveloped nasal alae, Micrognathia, Cryptorc...	ORPHA:2471
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Joint stiffness...	ORPHA:969
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone mineral density,...	ORPHA:2370
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi...	ORPHA:309169
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Anteverted nares, Microg...	OMIM:619135
Intellectual Developmental Disorder, X-Linked 91	Macrodontia, Small hand, Obesity, Short foot, Short 5th finger, High palate, Cubitus valgus, Clin...	OMIM:300577
Orofaciodigital Syndrome Type 6	Micrognathia, Feeding difficulties in infancy, Bilateral cryptorchidism, Preaxial polydactyly, Fi...	ORPHA:2754
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Narro...	OMIM:251450
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu...	OMIM:614561
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp...	OMIM:277150
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Short stature, Prominent nose, Microcephaly, Wide nasal bridge, Symphalangism af...	ORPHA:1292
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Severe short stature, Talipes, Coxa valga, Metatarsus adductus...	ORPHA:2557
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par...	ORPHA:216873
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he...	OMIM:268310
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Abnormal long bone morphology, Growth delay, Abnormal pelvic girdle bone morphology, S...	OMIM:259270
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Brachydactyly, Type A1	Short proximal phalanx of thumb, Radial deviation of the 3rd finger, Radial deviation of the 4th ...	OMIM:112500
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m...	OMIM:156510
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Micromel...	ORPHA:2021
Mulibrey Nanism	Frontal bossing, Wide nose, Hepatomegaly, Depressed nasal bridge, Single transverse palmar crease...	OMIM:253250
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ...	OMIM:619350
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Abdominal distention, Hip dislocation, Hemiverteb...	OMIM:619345
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Microcephaly, Tapered finger, Short finger, Acrocyanosis	OMIM:302000
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, High palate, Biparietal narrowing, Anteverted nares, C...	ORPHA:261250
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna...	ORPHA:93329
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,...	ORPHA:1860
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co...	ORPHA:401901
Satoyoshi Syndrome	Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Abnorm...	ORPHA:3130
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L...	OMIM:615314
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Convex nasal ...	ORPHA:1277
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogas...	ORPHA:251028
Monosomy 18Q	Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Bilateral cryptorchidism,...	ORPHA:1600
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Primary amenor...	OMIM:300604
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Long philtrum, Anteverted n...	OMIM:616331
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog...	ORPHA:2878
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Abnormal finger morphology, Brachycephaly, Short palm, Large...	ORPHA:2511
Tetrasomy X	Premature ovarian insufficiency, Abnormality of the dentition, Radioulnar synostosis, Hip dysplas...	ORPHA:9
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Increased head ...	ORPHA:94068
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Short stature, Broad nasal tip, Bifid nasal tip, Cleft palate, Poly...	OMIM:300484
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thickened calvaria, Micrognathia, Hypoplasia of the maxilla, Prominent nos...	ORPHA:439822
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Depressed nasal b...	ORPHA:140
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h...	OMIM:602557
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Brachydactyly, Type A1, C	Brachydactyly, Short stature, Short middle phalanx of the 2nd finger, Short middle phalanx of the...	OMIM:615072
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars...	ORPHA:2249
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Microcephaly, Cryptorchidism, Thin vermilion border,...	ORPHA:1920
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Short metatarsal, Small ...	OMIM:180870
Rhizomelic Syndrome, Urbach Type	Micrognathia, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb, Depressed ...	ORPHA:3098
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Short metacarpal,...	OMIM:211350
Gombo Syndrome	Microcephaly, Radial deviation of finger, Delayed puberty, Clinodactyly, Brachydactyly	OMIM:233270
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis, Microcephaly, Prominent nose, Dental malocclusion	OMIM:615541
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Broad nasal tip, Cl...	ORPHA:166016
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi...	OMIM:614078
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s...	OMIM:218330
Myotonia Congenita, Autosomal Recessive	Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm-up phenomenon, Dys...	OMIM:255700
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo...	OMIM:184250
Atelosteogenesis, Type Iii	Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Knee dislocation, Radi...	OMIM:108721
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Short metatarsal, Pectus carinatum, Cone-shaped epiphyse...	OMIM:190350
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Micrognathia, Limited elbow movement, Brachycephaly, Downturned corn...	OMIM:300590
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor...	OMIM:618019
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Brachydactyly, Type A2, With Microcephaly	Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti...	OMIM:211369
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Patchy variation in bone minera...	OMIM:215140
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho...	OMIM:617396
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Perching Syndrome	Cyanosis, Depressed nasal bridge, Feeding difficulties, High palate, Scoliosis, Dysphagia, Campto...	OMIM:617055
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of...	OMIM:257850
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Tricuspid regurgitation, Anteverted nares, Hypoplasia of the maxilla, Thick ve...	ORPHA:228396
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Short stature, Abnormality of the philtrum, Non-midli...	ORPHA:1770
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Cardiofaciocutaneous Syndrome	Feeding difficulties in infancy, High palate, Biparietal narrowing, Long philtrum, Anteverted nar...	ORPHA:1340
Alagille Syndrome	Micrognathia, Long nose, Brachycephaly, Abnormal form of the vertebral bodies, Vertebral segmenta...	ORPHA:52
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Con...	OMIM:218650
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Gastroesophageal reflux, Sh...	OMIM:600373
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Wide nasal bridge, Biparietal narrowing, Clinodactyly...	ORPHA:1581
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Brachycephaly, Femoral bowing, Gastroesophageal reflux, Choanal stenosis, Na...	ORPHA:95699
Craniodiaphyseal Dysplasia	Frontal bossing, Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening	ORPHA:1513
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor...	ORPHA:1876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Spina bifida occulta, S...	OMIM:617877
Pierpont Syndrome	Short neck, Widely spaced teeth, Short palm, Prominent fingertip pads, Micropenis, Prominent subc...	OMIM:602342
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t...	OMIM:609441
Lathosterolosis	Micrognathia, Downturned corners of mouth, High palate, Biparietal narrowing, Abnormal thoracic s...	ORPHA:46059
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate...	OMIM:268305
Cutis Laxa, Autosomal Recessive, Type Iie	Copper beaten skull, High palate, Clinodactyly of the 5th finger, Genu varum, Syndactyly, Lumbar ...	OMIM:619451
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Cranioectodermal Dysplasia	Narrow chest, Clinodactyly of the 5th finger, Microdontia, Finger syndactyly, Anteverted nares, A...	ORPHA:1515
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th...	ORPHA:353298
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte...	ORPHA:1512
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Distal Duplication 5Q	Hypoplasia of the ulna, Short stature, Prominent nasal bridge, Craniosynostosis, Micrognathia, Ab...	ORPHA:96097
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Midface retrusion, Anteverted nares, Kyphosis, Cone-shaped e...	ORPHA:420794
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Roifman Syndrome	Single transverse palmar crease, Downturned corners of mouth, Irregular vertebral endplates, Clin...	OMIM:616651
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Small for gestational age, Short stature, Progeroid facial appeara...	OMIM:608154
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ...	OMIM:613091
Blepharophimosis-Impaired Intellectual Development Syndrome	Gastroesophageal reflux, Short philtrum, Widely spaced teeth, Microdontia, Clinodactyly of the 5t...	OMIM:619293
Mosaic Trisomy 9	Micromelia, Micrognathia, Asplenia, Hemivertebrae, Finger clinodactyly, High palate, Biparietal n...	ORPHA:99776
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Large for gestation...	OMIM:615398
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Short stature, Single transverse palmar crease, Bifid di...	ORPHA:370010
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Knee disloca...	OMIM:143095
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Short stature, Camptodactyly of finger, Broad thumb, Short distal phalanx o...	ORPHA:1471
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Nasogastric tube feeding in infancy, Reduc...	ORPHA:2909
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Short neck, Cleft palate...	ORPHA:2015
Momo Syndrome	Large for gestational age, Brachycephaly, Femoral bowing, High palate, Abnormal bone ossification...	ORPHA:2563
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Pectus carinatu...	OMIM:618392
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Orofacial cleft,...	ORPHA:79107
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme...	ORPHA:2639
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs...	OMIM:613848
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Abdominal distention, Stillbirth, Short ribs, Absent or minimally o...	OMIM:600972
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Clinodactyly...	ORPHA:3268
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow...	OMIM:277440
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Lack of facial subcutaneous fat, Selective tooth agenesis, Microg...	ORPHA:2959
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Relative mac...	OMIM:239000
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal vertebral mor...	ORPHA:93352
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Micro...	ORPHA:166272
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Cutis marmorata, Broa...	OMIM:619719
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Frontal bossing, Abnormal rib morphology	ORPHA:1506
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Hall-Riggs Syndrome	Delayed eruption of teeth, Nausea and vomiting, Anteverted nares, Abnormal dental enamel morpholo...	ORPHA:2107
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Isotretinoin Syndrome	Depressed nasal bridge, Micrognathia, Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Front...	OMIM:600325
Slc35A2-Cdg	Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ...	ORPHA:356961
Dysostosis, Stanescu Type	Micromelia, Hypoplasia of the maxilla, Brachycephaly, Increased bone mineral density, Short statu...	ORPHA:1798
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micromelia, Symphalangis...	ORPHA:628
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Depressed nasal bridge, Short ling...	OMIM:619479
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Harrod Syndrome	Arachnodactyly, Hypospadias, Long nose, Cryptorchidism, Kyphosis, Dental malocclusion, Abnormal s...	ORPHA:2115
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Larsen-Like Syndrome	Frontal bossing, Short stature, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Brac...	OMIM:608545
Chromosome 20Q11-Q12 Deletion Syndrome	Frontal bossing, Brachydactyly, Feeding difficulties in infancy, Tarsal osteovalgus, Finger clino...	OMIM:614257
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Severe short stature, Pes planus, Ovoid vertebral bodies,...	OMIM:132400
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Bent Bone Dysplasia Syndrome 2	Osteopenia, Femoral bowing, Hypoplastic iliac wing, Short tibia, Hepatomegaly, Depressed nasal br...	OMIM:620076
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Myotonia Congenita, Autosomal Dominant	Handgrip myotonia, Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm...	OMIM:160800
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Short stature, Micrognathia, Microcephaly, Cryptorchidism, Wide nasal ...	OMIM:612626
Peho Syndrome	Anteverted nares, Tapered finger, Microcephaly, Open mouth, Gingival overgrowth, Pedal edema, Fee...	ORPHA:2836
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Abnormal form of the ...	ORPHA:818
Spinal Muscular Atrophy, Jokela Type	Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty...	OMIM:615048
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Brachycephaly, Femoral bowing, ...	OMIM:274000
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Hypospadias, M...	OMIM:614613
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Craniosynostosis, Microcephaly, Abnormality of the dentition, Deep ph...	ORPHA:251038
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Cleft palate, Secondar...	OMIM:615300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Iliac crest serration, ...	OMIM:613320
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short metacarpal, Short stature, Dental crowding, Underdeve...	OMIM:190351
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Small for gestational age, Femoral retroversion, Kyphoscoliosis, Cleft uppe...	OMIM:607371
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Gastroesophageal reflux, Narrow chest, Trident hand, Short metacarpa...	OMIM:618853
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Potocki-Lupski Syndrome	Mandibular prognathia, Small for gestational age, Short stature, Dental crowding, Oral-pharyngeal...	OMIM:610883
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology...	ORPHA:166011
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Long philtrum, Microretr...	OMIM:618870
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Abnormal thorax morphology, Cleft palate, Upper limb phoco...	ORPHA:294975
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss...	OMIM:210710
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Abnormality of the vertebra...	OMIM:302950
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Symphalangism affecting the phalanges of the hand, Co...	ORPHA:3237
Seckel Syndrome 7	Severe short stature, Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hyp...	OMIM:614851
Brachydactyly, Type A1, B	Short stature, Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short mi...	OMIM:607004
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Cohen Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Fee...	OMIM:216550
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate,...	ORPHA:1520
Bone Dysplasia, Lethal Holmgren Type	Micromelia, Depressed nasal ridge, Abnormal femur morphology, Narrow chest, Hepatomegaly, Antever...	ORPHA:1842
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Depressed nasal bridge, Broad uvula, Broad nas...	ORPHA:2804
Nicolaides-Baraitser Syndrome	High, narrow palate, Abnormal finger morphology, Short palm, Thick nasal alae, Anteverted nares, ...	ORPHA:3051
Summitt Syndrome	Finger syndactyly, Wide nose, Camptodactyly of finger, Craniosynostosis, Depressed nasal ridge, O...	ORPHA:3210
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Median cleft lip, Accessory oral frenulum, Broad nasal tip, Bifid ...	OMIM:258865
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Spinocerebellar Ataxia 37	Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls	OMIM:615945
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Reticulocytopenia, Leukopenia, Neutropenia, Short metacarpal, Tricuspid regurgitation, Short stat...	ORPHA:508542
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Relative macrocephaly, Prominent nose, Dolichocephaly, Wide nasal bridge, ...	OMIM:617169
Acromicric Dysplasia	Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, B...	OMIM:102370
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Barre...	OMIM:200610
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bow...	OMIM:264700
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Fanconi Anemia, Complementation Group S	Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,...	OMIM:617883
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Müllerian Aplasia And Hyperandrogenism	Short stature, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Short philtrum, Increa...	ORPHA:247768
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Micrognathia, Microcephaly, Non-midlin...	ORPHA:1915
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po...	OMIM:263750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Adducted thumb, Hydrocele testis, Notched primary central incisor, Brachydactyly	OMIM:620062
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Single transverse palmar crease, Dental malocclusion, Short f...	OMIM:601957
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:613680
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Cri-Du-Chat Syndrome	Single transverse palmar crease, Feeding difficulties in infancy, Short metatarsal, Orofacial cle...	OMIM:123450
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Orofaciodigital Syndrome Xviii	Sandal gap, Prominent nasal bridge, Postaxial polydactyly, Single transverse palmar crease, Short...	OMIM:617927
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Cleft upper lip, Cleft palate, Hypoplasia of the uterus, Azoospermia...	OMIM:601076
Shox-Related Short Stature	Short stature, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum,...	ORPHA:314795
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Anteverted nares, Short stature, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossopt...	ORPHA:2031
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Feingold Syndrome Type 2	Toe syndactyly, Short stature, Microcephaly, Short thumb, Short middle phalanx of finger, Brachyd...	ORPHA:391646
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama...	OMIM:258860
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion,...	ORPHA:1193
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Thoracic platyspondyly, Metaphyseal wide...	OMIM:618961
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,...	ORPHA:2662
Joubert Syndrome	Anteverted nares, Prominent nasal bridge, Feeding difficulties in infancy, Abnormal form of the v...	ORPHA:475
Tetralogy Of Fallot	Abnormal nasal morphology, Cryptorchidism, Thin vermilion border, Dolichocephaly, Clinodactyly of...	ORPHA:3303
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in inf...	OMIM:182212
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Depressed nasal bridge, Large for gestational age, Feeding difficulties in infancy, Abdominal dis...	ORPHA:226313
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, High ...	OMIM:218600
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Dental malocclusion, Temporomandibular joint ankylos...	OMIM:614669
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, B...	OMIM:269500
Qazi-Markouizos Syndrome	Prominent nasal bridge, Tapered finger, Pectus excavatum, Abdominal distention, High, narrow pala...	ORPHA:3010
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra...	OMIM:615362
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Severe shor...	ORPHA:2746
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Microcephaly, Tremor, Hyperphenylalaninemia, Dysphagia, Cho...	OMIM:261630
Ruvalcaba Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Pectus carinatum, Narrow chest, Clinoda...	ORPHA:3121
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Ost...	OMIM:212720
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia	OMIM:141500
Omodysplasia 1	Micrognathia, Short neck, Limited elbow flexion, Short tibia, Depressed nasal bridge, Rhizomelia,...	OMIM:258315
Joubert Syndrome With Ocular Defect	Anteverted nares, Prominent nasal bridge, Orofacial cleft, Feeding difficulties, Cleft palate, Ha...	ORPHA:220493
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the...	ORPHA:85279
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip di...	OMIM:605274
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Schaaf-Yang Syndrome	Mandibular prognathia, Gastroesophageal reflux, Short stature, Tapered finger, Cryptorchidism, Ob...	OMIM:615547
Kabuki Syndrome 2	Micrognathia, Feeding difficulties in infancy, High palate, Prominent fingertip pads, Short statu...	OMIM:300867
Keipert Syndrome	Wide nose, Midface retrusion, Broad hallux, Exaggerated cupid's bow, Prominent nose, Macrocephaly...	OMIM:301026
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Underdeveloped nasal alae, Diastema, Dental malocclusion, Malar flat...	ORPHA:436245
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Autosomal Recessive Distal Osteolysis Syndrome	Short stature, Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolys...	ORPHA:2776
Phenobarbital Embryopathy	Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholog...	ORPHA:1919
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ...	OMIM:609325
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hypop...	ORPHA:1540
Satoyoshi Syndrome	Short metacarpal, Short stature, Short metatarsal, Amenorrhea, Osteolytic defects of the phalange...	OMIM:600705
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Frontal bossing, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridg...	OMIM:165800
Paramyotonia Congenita	Handgrip myotonia, Feeding difficulties, Percussion myotonia, Skeletal muscle hypertrophy, Parado...	OMIM:168300
Non-Distal Duplication 10Q	Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Joint hyperflexibility, High...	ORPHA:1695
20P12.3 Microdeletion Syndrome	Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypo...	ORPHA:261295
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Genu valgum, Promine...	OMIM:300602
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Brachycephaly, Prominent...	OMIM:618371
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Feeding difficulties in infancy, Coxa vara, Pectus carinatum, High pala...	ORPHA:800
20Q11.2 Microdeletion Syndrome	Frontal bossing, Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camp...	ORPHA:444051
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Bardet-Biedl Syndrome 5	Syndactyly, Obesity, Hypogonadism, Polydactyly, Brachydactyly	OMIM:615983
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Short stature, Hypoplasti...	OMIM:169550
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyl...	OMIM:616145
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Inappropriate laughter...	OMIM:616269
Pseudoachondroplasia	Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmente...	OMIM:177170
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Abn...	ORPHA:3409
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Bilateral single transverse palmar creases, Mic...	ORPHA:444002
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Long philtrum, Fused thoracic vert...	ORPHA:97360
Brachydactyly-Preaxial Hallux Varus Syndrome	Frontal bossing, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Sho...	ORPHA:1278
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Abnormal p...	ORPHA:1830
Trochlea Of The Humerus, Aplasia Of	Short humerus, Cleft palate	OMIM:191000
Joubert Syndrome With Renal Defect	Anteverted nares, Prominent nasal bridge, Orofacial cleft, Feeding difficulties, Cleft palate, Ha...	ORPHA:220497
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Huntington Disease-Like 1	Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax...	ORPHA:157941
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Opsismodysplasia	Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Long philtrum, S...	OMIM:258480
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas...	OMIM:134780
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the rad...	ORPHA:2319
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Anteverted nares, Prominent nasal bridge, Portal hypertension, Feeding difficulties...	ORPHA:1454
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Convex nasal ridge, Micrognathia, Mic...	ORPHA:666
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short stature, Short metatarsal, S...	ORPHA:93384
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b...	ORPHA:163649
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Midface retrusion, Brachycephaly, Brachydactyly	ORPHA:35099
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Coxa vara, Metaphyseal cupping of metacarpals, Thoracic kyphosis, High pala...	OMIM:300232
Metatropic Dysplasia	Severe short stature, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal encho...	ORPHA:2635
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Lethal Recessive Chondrodysplasia	Limb undergrowth, Flared elbow metaphyses, Micromelia, Micrognathia	ORPHA:1423
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Depressed nasal bridge, Short stature, Cryptorchidism, Obesity, Scol...	ORPHA:94065
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Metaphyseal cupping of proximal pha...	OMIM:300863
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Brachycephaly, Downtu...	OMIM:300882
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Abnormal external g...	ORPHA:3473
Tetrasomy 5P	Micrognathia, High palate, Clinodactyly of the 5th finger, Long philtrum, Anteverted nares, Short...	ORPHA:3309
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Severe short stature, Anteverted nares, Choanal atresia, Failure to...	ORPHA:2645
C Syndrome	Micromelia, Micrognathia, High palate, Biparietal narrowing, Clinodactyly of the 5th finger, Bila...	ORPHA:1308
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Cutis marmorata, Thick lower lip vermilion, Dental ma...	OMIM:157980
Lessel-Kreienkamp Syndrome	Frontal bossing, Thin upper lip vermilion, Scaphocephaly, Dental malocclusion, Wide nasal bridge,...	OMIM:619149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Enlarged thorax, Thick uppe...	ORPHA:163654
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Downturned corners of mouth, Short phalanx of finger, Long philtrum, Syndactyly, Tr...	OMIM:616894
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Gloss...	ORPHA:1427
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Short femur, Anteverted nares, Metaphyseal spurs, Depressed nasal br...	OMIM:618188
Craniosynostosis 1	Frontal bossing, Turricephaly, Sagittal craniosynostosis, Craniosynostosis, Oxycephaly, Scaphocep...	OMIM:123100
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Micrognathia, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Broad hallux, Depressed ...	OMIM:620073
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Hypocalcemic Vitamin D-Dependent Rickets	Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Deformed rib ...	ORPHA:289157
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di...	OMIM:615777
Eng-Strom Syndrome	Short stature, Camptodactyly of finger, Pectus excavatum, Scoliosis, Intrauterine growth retardat...	ORPHA:1937
Hamamy Syndrome	Osteopenia, Prolonged QRS complex, Micrognathia, Microcytic anemia, Brachycephaly, High palate, C...	OMIM:611174
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Overlapping toe, Hypospadias, Endometriosis, Abnormality of the ...	ORPHA:363444
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Anemia of inadequate production, A...	OMIM:614900
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Prim...	ORPHA:2975
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flat occiput, Depressed nasal bridge, Small for gestational age, Microcephaly, Postnatal growth r...	ORPHA:319332
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, ...	OMIM:249420
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ...	ORPHA:776
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Wide nose, Rocker bottom foot, Dolichocephaly, Wide nasal bridge, Hypoplastic ...	ORPHA:89844
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Lateral humeral condyle aplasia, Symphalangism affecting the...	ORPHA:2741
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Brachycephaly, Long thorax, Narrow gre...	OMIM:617925
Distal Duplication 18Q	Hypoplasia of penis, Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Ara...	ORPHA:1716
Cog7-Cdg	Hepatomegaly, Failure to thrive, Small for gestational age, Micrognathia, Postnatal growth retard...	ORPHA:79333
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, Gastroesophageal reflux, High palate, Cli...	OMIM:117650
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, High palate, Short philtrum, Bifid uvula, Depressed nasal bridge, Anteverted nares,...	ORPHA:96184
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Flared metaphysis, Advanced ossification of car...	OMIM:215045
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Frontal bossing, Prominent superficial veins, Smal...	OMIM:269880
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Thickened calvaria, Pers...	OMIM:265900
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Microcephaly, Osteoporosis, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Three M Syndrome 1	Mandibular prognathia, Increased vertebral height, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:273750
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Short nose, Convex nasal ridge, Brachyda...	ORPHA:2145
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Abnormal form of the vertebral bodies...	ORPHA:192
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Single transv...	OMIM:216340
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
46,Xx Gonadal Dysgenesis	Streak ovary, Arachnodactyly, Premature ovarian insufficiency, Short stature, Increased circulati...	ORPHA:243
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Absent ossificatio...	OMIM:166210
15Q14 Microdeletion Syndrome	Short stature, Prominent nasal bridge, Microcephaly, Abnormality of the dentition, Kyphosis, Clef...	ORPHA:261190
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short foot, Talipes equinovarus, Short nose	ORPHA:93298
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar...	OMIM:615924
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Pes planus, Relative macrocephaly, Sandal gap, Depressed nasal bridge, Sho...	OMIM:300354
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle...	ORPHA:246
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydac...	OMIM:617895
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, Gastroesophageal reflux,...	OMIM:616580
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Intestinal per...	OMIM:603041
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Hypospadias, Cra...	OMIM:614732
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce...	ORPHA:3320
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Feeding difficulties in infancy, Broad hallux, Exaggerated cupid's bow, Tapered fin...	OMIM:618659
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Macrocephaly/Autism Syndrome	Frontal bossing, Hepatomegaly, Lymphopenia, Depressed nasal bridge, Large for gestational age, Sp...	OMIM:605309
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive...	OMIM:617284
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Micrognathia, Precocious puberty, Postnatal growth retardation, Small hand, Obesity, S...	ORPHA:254531
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal...	ORPHA:1352
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, He...	OMIM:211750
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Hurler Syndrome	Metaphyseal widening, Microdontia, Hepatomegaly, Hypoplasia of the femoral head, Anteverted nares...	OMIM:607014
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Feeding difficulties in infanc...	OMIM:115150
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Long philtrum, Short metacar...	OMIM:614813
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Handgrip myotonia, Distal lower limb amyotrophy, Myotonia, Camptodactyly of ...	ORPHA:324442
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Midface retrusion, Lumbar hyperlordosis, Rhizomelia...	OMIM:612813
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Short stature, Accessory oral frenulum, Osteolysis involving bones of the upper limbs...	ORPHA:88630
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Gastroesophageal...	OMIM:300373
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Hypoplasia of the thymus, Narrow chest,...	OMIM:264090
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Ab...	ORPHA:1803
Temtamy Syndrome	Pes planus, Micrognathia, Dolichocephaly, Short toe, Thick lower lip vermilion, Genu varum, Macro...	ORPHA:1777
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Abnormal morphology of ulna, Abnormal dental morphology, Abnormality of the dentit...	ORPHA:1837
Joubert Syndrome With Oculorenal Defect	Anteverted nares, Prominent nasal bridge, Hand polydactyly, Foot polydactyly, Scoliosis, Bipariet...	ORPHA:2318
Grant Syndrome	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia, O...	ORPHA:2097
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Short stature, Abnormal dental en...	ORPHA:1133
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening, Clavicular sclerosis	ORPHA:2790
Brody Disease	Percussion myotonia, Myotonia, Flexion contracture, Skeletal muscle hypertrophy	OMIM:601003
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ...	OMIM:271650
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu...	OMIM:602418
Occipital Horn Syndrome	Pectus carinatum, High palate, Narrow chest, Broad ribs, Pelvic bone exostoses, Chronic diarrhea,...	OMIM:304150
1Q44 Microdeletion Syndrome	Frontal bossing, Short stature, Exaggerated cupid's bow, Microcephaly, Micrognathia, Growth delay...	ORPHA:238769
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Frontal bos...	ORPHA:93267
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endp...	OMIM:612847
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c...	OMIM:305400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Narrow mouth, Cryptorchidism, Cleft palate, Thin vermilion border, Long philtrum, ...	OMIM:615502
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ...	OMIM:128235
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Kyphoscoliosis, Cr...	ORPHA:65759
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Hypertension And Brachydactyly Syndrome	Short metacarpal, Short stature, Cone-shaped epiphysis, Hypertension, Short phalanx of finger, Ty...	OMIM:112410
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Pe...	OMIM:101200
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint ...	ORPHA:2655
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Gastroparesis, Quadriceps muscle weakness, ...	ORPHA:70
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Prema...	ORPHA:633
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Microcephaly, Splenomegaly, Abnormal...	ORPHA:2204
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ...	OMIM:310440
Ulbright-Hodes Syndrome	Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpal, Depressed...	ORPHA:3404
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Pos...	OMIM:241800
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Nasogastric tube feeding in infan...	ORPHA:93316
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Depressed nasal bridge, Anteverted nares, Micrognathia, Large for gestational ag...	OMIM:618272
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Anteverted nares, Micromelia, Genu valgum, Convex nasal ridge	ORPHA:1035
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Osteosclerosis of the base of the skull, Premature ovarian insufficiency	OMIM:609993
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Achondrogenesis	Short nose, Anteverted nares, Micromelia, Micrognathia	ORPHA:932
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Microcephaly, Abnormality of the dentition, Growth delay, Epiphyseal s...	ORPHA:177
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Sho...	OMIM:613604
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Relative macrocephaly, Hepatomegaly, Anteverted nares, Dental crowding...	OMIM:616354
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Depressed nasal ridge, High palate, Biparietal narrowing, Sh...	ORPHA:261337
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Neonatal short-limb short stature, Distal shortening of limbs, Short ...	ORPHA:50945
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T...	ORPHA:1307
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth, Short stature	OMIM:616108
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Oral-pharyngeal dysphagia, Long nose, Oligodontia, Short palm, Thick vermilion b...	OMIM:619184
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Rhiny	Short nose, Anteverted nares	OMIM:180360
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent nose, Tapered finger, Long fingers, Microcephaly, Thick lower lip vermilion, Atrioventr...	OMIM:614407
Coffin-Siris Syndrome 2	High palate, Short philtrum, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchid...	OMIM:614607
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of car...	OMIM:620269
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Microcephaly, Abnormal rib morphology, Downturned corners of mouth, Abnorma...	ORPHA:2643
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short metatar...	OMIM:612463
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Camptodactyly of f...	ORPHA:2633
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, High, narrow palate, Sh...	ORPHA:193
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the...	OMIM:617604
Tonne-Kalscheuer Syndrome	Decreased testicular size, Pes planus, Short stature, Prominent nasal bridge, Convex nasal ridge,...	OMIM:300978
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Premature loss of teet...	OMIM:102500
Metaphyseal Anadysplasia	Bowing of the long bones, Short stature, Abnormal morphology of ulna, Abnormality of the lower li...	ORPHA:1040
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Hepatomegaly, Short stature, Abnormality of the philtrum, Microm...	ORPHA:1597
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Meckel Syndrome, Type 8	Microcephaly, Cleft upper lip, Abdominal distention, Depressed nasal ridge, Cleft palate, Polydac...	OMIM:613885
Cerebellofaciodental Syndrome	Pes planus, Short stature, Single transverse palmar crease, Tapered finger, Microcephaly, Cryptor...	OMIM:616202
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose, Failure to thrive	OMIM:618379
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the ...	OMIM:620099
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short stature, Anteverted nares, Hypospadias, Depressed nasal ridge, Narrow mouth, Short nose, Ab...	ORPHA:1355
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Rib osteolysis, Microretrognathia, Short s...	OMIM:614008
Smith-Magenis syndrome	Short stature, Brachydactyly	DECIPHER:8
Anauxetic Dysplasia 1	Mandibular prognathia, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped chest, Lumbar hy...	OMIM:607095
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Short stature, Bowing of the legs, Pectus excavatum, Disproportionate short...	ORPHA:156728
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Moebius Syndrome	Abnormal nasopharynx morphology, Micrognathia, Feeding difficulties in infancy, High palate, Lowe...	OMIM:157900
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Brachydactyly Type E	Frontal bossing, Short metacarpal, Short stature, Aplasia/Hypoplasia of the distal phalanx of the...	ORPHA:93387
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Restrictive Dermopathy 2	Microretrognathia, Cyanosis, Hypoplastic facial bones, Feeding difficulties, Overtubulated long b...	OMIM:619793
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Flat occiput, Bo...	OMIM:600081
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na...	OMIM:601224
Bardet-Biedl Syndrome 18	Obesity, Brachydactyly	OMIM:615995
Zebra Body Myopathy	Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi...	ORPHA:97240
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Micrognathia, Feeding difficulties in infancy, Postnatal growth retardatio...	ORPHA:254525
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy...	ORPHA:251282
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi...	OMIM:618093
Temple Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Bifid uvula, Depressed nasal brid...	OMIM:616222
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Gastr...	OMIM:614701
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Hypospadias, ...	ORPHA:171839
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Shor...	ORPHA:1855
Myotonia Permanens	Myotonia, Generalized muscle hypertrophy, Limitation of joint mobility, Skeletal muscle hypertrop...	ORPHA:99735
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Pe...	OMIM:300676
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, M...	OMIM:607317
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Feeding difficulti...	OMIM:611209
Coffin-Siris Syndrome 6	Frontal bossing, Depressed nasal bridge, Short stature, Kyphoscoliosis, Micrognathia, Broad nasal...	OMIM:617808
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid...	ORPHA:1406
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors...	OMIM:128100
Osseous Heteroplasia, Progressive	Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph...	OMIM:123000
Rippling Muscle Disease 1	Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding	OMIM:600332
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Frontonasal Dysplasia 1	Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand pol...	OMIM:136760
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Anteverted nares, Foot joint contr...	ORPHA:444072
Verheij Syndrome	Joint laxity, Thin upper lip vermilion, Vertebral fusion, Anteverted nares, Short stature, Small ...	OMIM:615583
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Pectus carinatum, Narrow greater sciatic notch, Widely spaced teeth, Anterior bea...	OMIM:253220
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa...	OMIM:616710
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Faciocardiomelic Syndrome	Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, Mi...	OMIM:612731
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Rigidity, Tremor, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete...	ORPHA:240085
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Fountain Syndrome	Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Abnormal foot morphol...	ORPHA:3219
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors	OMIM:159900
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Thin upper lip vermilion, Sacral dimple, Pes planus, Short stature, Single transver...	OMIM:613544
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Camptodactyly, Short nose	OMIM:610015
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Talipes calcaneovarus, High palat...	OMIM:300534
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Abnor...	ORPHA:3104
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Hypoplasia of penis, Short stature, Micrognathia, Abnormality of the dentition, Cr...	ORPHA:85321
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Micrognathia, Cryptorchidism, Obesity, Hip dysplasia, Thin verm...	OMIM:617991
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di...	OMIM:155310
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Cone-shaped epiphysis, Disproportionate short-limb s...	OMIM:618618
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Short stature, Decreased response to growth hormone stimulation test, ...	OMIM:615866
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Meta...	OMIM:255800
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Antever...	OMIM:227330
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short stature, Hypertension, Short phalanx of finger, Brachydactyly	ORPHA:1276
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi...	OMIM:216400
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou...	ORPHA:2378
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Latera...	OMIM:224690
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synosto...	OMIM:618577
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Lateral clavicle hook, Splenomegaly, Postaxial hand polydactyly, Obe...	OMIM:615630
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Midface retrusion, Brachydactyly	ORPHA:435804
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, Lateral disp...	OMIM:242900
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Thoracic hypoplasia, Thrombocytopenia, Congestive heart failure, Pulmon...	OMIM:619751
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes, Short stature, Mic...	ORPHA:502
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger...	ORPHA:137834
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Congenital-Onset Steinert Myotonic Dystrophy	Myotonia, Facial hypotonia, Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal ...	ORPHA:589821
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M...	OMIM:180849
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Dysphagia, Tip-toe gait, Gait ...	ORPHA:216866
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Rippling Muscle Disease 2	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con...	OMIM:606072
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Pectus excavatum, Cryptorchidism, Small hand, Wide nasal bridge, Pectus...	OMIM:614684
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Loss of ambulation, Fasciculations	OMIM:182980
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, Gastroesophageal reflux, ...	OMIM:613792
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil...	OMIM:616737
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Weyers Acrofacial Dysostosis	Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Solitary median maxillary ...	OMIM:193530
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Brachycephaly, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hepatic...	OMIM:263520
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Sco...	OMIM:601357
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Myotonia, Dysphagia	ORPHA:99736
Lowry-Wood Syndrome	Small for gestational age, Short stature, Prominent nose, Microcephaly, Squared iliac bones, Hip ...	OMIM:226960
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Depressed nasal bridge, Failure to thrive in infancy, Ankle flexion contracture, Gastrostomy tube...	ORPHA:284417
Laron Syndrome	Limb undergrowth, Short long bone, Severe short stature, Delayed menarche	OMIM:262500
Myopathy, Myofibrillar, 8	Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Achilles tendon contracture, Dental...	OMIM:617258
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Abnorma...	ORPHA:93262
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Genu valgum, Downturned corners of mout...	ORPHA:2983
Smith-Magenis Syndrome	Mandibular prognathia, Pes planus, Everted upper lip vermilion, Short stature, Abnormality of the...	OMIM:182290
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Pectus excavatum, Abnormality of the pancreas, Reduced bone mineral density, Long fibula, Biparie...	ORPHA:935
Pycnodysostosis	Frontal bossing, Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, ...	OMIM:265800
Richieri Costa-Da Silva Syndrome	Handgrip myotonia, Myotonia of the upper limb, Decreased muscle mass, Diastasis recti, Limitation...	ORPHA:3101
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Acrofacial Dysostosis, Catania Type	Feeding difficulties in infancy, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta...	ORPHA:1786
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,...	OMIM:166300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor, Gait disturbance	OMIM:611808
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Proteasome-Associated Autoinflammatory Syndrome 1	Prominent nose, Microcytic anemia, Premature graying of hair, Hepatomegaly, Short stature, Lympha...	OMIM:256040
Meier-Gorlin Syndrome 5	Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Irregular femoral epiphysis...	OMIM:613805
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Hypoplastic iliac wing, Short ...	OMIM:263650
Emery-Nelson Syndrome	Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb...	ORPHA:1927
Cockayne Syndrome B	Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas...	OMIM:133540
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Talipes, Pos...	OMIM:619879
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Dolichocephaly, Cryptorchidism, Dental malocclusion, Slender toe, Macrocephaly, H...	OMIM:310400
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti...	ORPHA:37553
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Microcephaly, Bulbous nose, Short foot, Periodontitis, Reduction of ...	OMIM:266265
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Severe short stature, Protrusio acetabuli, Abnormal femoral head morphology, Short to...	ORPHA:2619
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga	OMIM:620270
Mucolipidosis Type Iv	Genu recurvatum, Microcephaly, Abnormal nasal morphology, Palmoplantar keratoderma, Everted lower...	ORPHA:578
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Deep...	ORPHA:261120
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Hepatomegaly, Micrognathia, Deep philtrum, Dental malocclus...	ORPHA:329178
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Meier-Gorlin Syndrome 4	Genu recurvatum, Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Lateral cl...	OMIM:613804
Tetrasomy 9P	Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p...	ORPHA:3310
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri...	OMIM:124480
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, High palate, Spina ...	OMIM:193700
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Long nose, Patellar hypoplasia, Facial erythema, Vomiting, High pala...	ORPHA:221016
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Hypoplasia of the maxilla, Conical tooth, Diastem...	OMIM:619142
Myotonia, Potassium-Aggravated	Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Percussion myotonia, Skeletal muscle hypert...	OMIM:608390
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Small for gestational...	OMIM:616229
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Single transverse palmar crease, Prominent nose, Narrow greater sciatic notch, Dislocated radial ...	OMIM:617425
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Ohdo Syndrome	Joint laxity, Small scrotum, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathi...	OMIM:249620
Temple Syndrome	Relative macrocephaly, Frontal bossing, Small for gestational age, Short stature, Feeding difficu...	ORPHA:254516
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas...	ORPHA:783
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasti...	ORPHA:208441
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Microcephaly, ...	ORPHA:3304
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Abnormality of the nose, Carious teeth, Scoliosis, Clinodactyly of the 5t...	ORPHA:1390
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Flat occiput, Patellar hypoplasia, Thoracic kyphosis, Hi...	ORPHA:3041
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Feeding difficulties in infancy,...	ORPHA:819
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Thin upper lip vermilion, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hyp...	ORPHA:1295
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or...	ORPHA:454887
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Broad hallux, Anteverted nares, Short stature, Cleft soft...	OMIM:618529
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal rib morphology, Narrow chest, Mesomelic/rhizomelic limb ...	ORPHA:1354
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,...	OMIM:617013
Myotonia Fluctuans	Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni...	ORPHA:99734
17P13.3 Microduplication Syndrome	Wide nose, Congenital hip dislocation, Hypoplasia of penis, Short neck, High palate, Narrow mouth...	ORPHA:217385
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, High, narrow palate, Abnormal intrahepatic bile duct morphology, Promin...	ORPHA:485405
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Myotonia, Joint stiffness, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrop...	ORPHA:209335
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan...	OMIM:619028
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Joint stiffness, Achilles te...	ORPHA:98855
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydacty...	ORPHA:2920
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Long philtrum...	ORPHA:391408
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short toe, Sh...	OMIM:103580
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abn...	ORPHA:263463
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Broad-based gait, Hyperactivity, Parkinsonism, Anorexia, A...	ORPHA:3077
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Dysphagia, Gait ataxia...	ORPHA:225147
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Plagiocephaly, Slender lo...	OMIM:618265
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly, Oligodactyly	OMIM:614416
Alopecia-Intellectual Disability Syndrome	Short stature, Hypergonadotropic hypogonadism, Microcephaly, Abnormal nasal morphology, Split han...	ORPHA:2850
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Ataxia, Tremor, Myoclonus	OMIM:616187
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk, Stereotypical hand wringing	OMIM:619561
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capital femoral epiphys...	OMIM:215150
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn...	ORPHA:1865
Spinocerebellar Ataxia Type 27	Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Gait di...	ORPHA:98764
Intellectual Developmental Disorder, Autosomal Dominant 59	Short palm, Short stature, Short foot, Long philtrum, Macrocephaly, Mild short stature, Brachydac...	OMIM:618522
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Feed...	ORPHA:508488
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Gastroesopha...	ORPHA:354
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormality of the philtrum, M...	ORPHA:2863
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Precocious puberty, Narrow mouth, Open mouth, Delayed eruption of...	OMIM:619356
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor...	ORPHA:96148
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Facial erythema, Vomiting, Neutropenia, Microdo...	ORPHA:221008
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Cryptorchidism, Cholestasis, Vomi...	OMIM:608104
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Depressed nasal bridge, Broad hallux, Small for gestational age, Micrognathia, M...	OMIM:614541
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Short stature, Postaxial polydactyly, Pancreatic fibrosis, La...	OMIM:615503
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Short stature, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of fing...	OMIM:132450
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Obesity, Polydactyly, Hypogonadism, Bra...	OMIM:615982
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow gr...	OMIM:602271
Immunodeficiency 77	Gastroparesis	OMIM:619223
Meckel Syndrome 12	Rocker bottom foot, Micrognathia, Hypoplasia of the uterus, Vaginal atresia, Intrauterine growth ...	OMIM:616258
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Jansen-De Vries Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Hyperlordosis, Parietal foramina, Smal...	OMIM:617450
Progressive Supranuclear Palsy-Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi...	ORPHA:240103
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti...	ORPHA:79345
Episodic Ataxia Type 1	Calf muscle hypertrophy, Myotonia, Nausea	ORPHA:37612
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Thickened calvaria, Hypoplastic vertebral bodies, Downturned corners of mouth, Short ...	ORPHA:3455
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hypophosphatasia, Infantile	Anorexia, Bowing of the legs, Micromelia, Craniosynostosis, Abnormality of the dentition, Vertebr...	OMIM:241500
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Short stature, Microcephaly, Wide nasal bridge, Biparietal narrowing, Scoliosis...	ORPHA:2518
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Persistence of primary teeth, Conical tooth, Dental malo...	OMIM:618727
Clark-Baraitser Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ...	OMIM:617752
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad ribs,...	OMIM:608328
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, ...	OMIM:617866
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death, Abno...	OMIM:314390
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Hypospad...	OMIM:619736
Satb2-Associated Syndrome Due To A Pathogenic Variant	Osteopenia, Thin upper lip vermilion, Abnormality of the hand, Micrognathia, Feeding difficulties...	ORPHA:576283
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Short stature, Hyperlordos...	ORPHA:710
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Hypoplasia of the max...	OMIM:231070
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Small for gestational age, Short stature, Dental crowding, Lower limb asym...	ORPHA:231140
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Microcephaly, Tremor, Aggressive behavior, Choreoathetosis, Transient hype...	OMIM:612716
Leri Pleonosteosis	Severe short stature, Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finge...	ORPHA:2900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Facial palsy, Constipation, Gastroesophageal reflux, Limb muscle weakness	OMIM:610131
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Myotonia, Bowel incontinence, Feeding difficulties in infancy, Flexion c...	ORPHA:682
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Frontal bossing, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Flat occiput, Bo...	OMIM:241530
Noonan Syndrome 4	Pectus excavatum of inferior sternum, Depressed nasal bridge, Short stature, Large for gestationa...	OMIM:610733
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphyseal ossific...	ORPHA:785
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Joint stiffness, Achilles te...	ORPHA:98863
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Gastroesophageal ref...	ORPHA:198
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate ve...	ORPHA:1914
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Joint stiffness, Achilles te...	ORPHA:261
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Joint stiffness, Achilles te...	ORPHA:98853
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome, Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydac...	OMIM:140450
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Tented upper lip vermilion, Anteverted nares, Rocker bottom f...	OMIM:619762
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Downturned corners of mouth, Wide mouth, Everted lower ...	OMIM:618067
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Dystonia, Mental deterioration, Abnormal posturing	OMIM:304700
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br...	OMIM:614188
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl...	OMIM:614592
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Microcephaly, Cryptorchidism, Depressed nasal ridge, O...	ORPHA:464288
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Thoracic hypoplasia, Micromelia, Micrognathia, Mi...	OMIM:224410
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Sialuria	Frontal bossing, Thin upper lip vermilion, Hepatomegaly, Thoracic hypoplasia, Splenomegaly, Wide ...	OMIM:269921
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, ...	OMIM:268300
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Cryptorchidis...	OMIM:615419
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Cryptorc...	ORPHA:2701
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Hyperactivity, Spastic tetraparesis, Microcephaly, Tremor, Aggressive behavior,...	OMIM:619470
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,...	ORPHA:508533
Sillence Syndrome	Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular roof, Bulbou...	ORPHA:3168
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A...	ORPHA:90653
Kagami-Ogata Syndrome	Frontal bossing, Hepatomegaly, Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphosco...	OMIM:608149
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia...	ORPHA:363710
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology	ORPHA:91412
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux,...	OMIM:613803
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin...	ORPHA:3095
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Erythrokeratodermia Variabilis	Short stature, Microcephaly, Tapered finger, Erythema, Patchy palmoplantar hyperkeratosis, Weight...	ORPHA:317
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o...	OMIM:154230
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Brachycephaly, Abno...	ORPHA:175
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Failure to thrive in inf...	ORPHA:313781
Macrocephaly, Benign Familial	Frontal bossing, Dolichocephaly, Macrocephaly, Biparietal narrowing, Long philtrum	OMIM:153470
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,...	OMIM:184253
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve...	ORPHA:2462
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Urocanase Deficiency	Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Acrofacial Dysostosis, Catania Type	Hypospadias, Short stature, Carious teeth, Cryptorchidism, Short palm, Intrauterine growth retard...	OMIM:101805
Microcephaly-Capillary Malformation Syndrome	Wide nose, Small for gestational age, Short stature, Hypoplasia of the maxilla, Cleft palate, Pro...	OMIM:614261
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Abnormal foot morphology, Dila...	ORPHA:168796
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Aplasia of the pectoralis major muscle, Abnormal finger morphology,...	ORPHA:3138
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Triphalangeal th...	ORPHA:794
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili...	ORPHA:66624
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Absent gallbladder, Mi...	ORPHA:3186
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Short stature, Hepatocellular carcinoma, Abdominal distention, Osteopor...	ORPHA:369
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Short stature, Micromelia, Kyphosis, S...	ORPHA:93274
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Constipation, Hyposmia, Nausea	ORPHA:2828
Marinesco-Sjögren Syndrome	Short palm, Severe short stature, Coxa valga, Avascular necrosis of the capital femoral epiphysis...	ORPHA:559
Acromelic Frontonasal Dysostosis	Syndactyly, Broad nasal tip, Bifid nasal tip, Parietal foramina, Cleft upper lip, Cryptorchidism,...	OMIM:603671
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Frontal bossing, Arachnodactyly, Hypogonadotropic hypogo...	ORPHA:377
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Anteverted nares, Hypopla...	ORPHA:481152
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho...	ORPHA:157965
Diamond-Blackfan Anemia 21	Micrognathia, Short stature, Tapered finger, Short toe, Chronic diarrhea, Obesity, Narrow mouth, ...	OMIM:620072
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Relative macrocephaly, Midface retrusion, Lumbar hyperlordosis, Rhizomelia...	ORPHA:171866
Mgat2-Cdg	Osteopenia, Gastroparesis, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph...	ORPHA:79329
Chops Syndrome	Anteverted nares, Gastroparesis, High, narrow palate, Gastroesophageal reflux, Constipation, Trac...	OMIM:616368
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin...	OMIM:179270
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Osteopenia, Frontal bossing, Anteverted nares, Depressed nasal bri...	OMIM:615789
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint...	OMIM:164900
Monosomy 18P	Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Microcephaly, Pectus excavatum, Wide ...	ORPHA:1598
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Gastroparesis, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, L...	OMIM:157640
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Muscular Dystrophy, Barnes Type	Myopathy, Myotonia, Muscular dystrophy	OMIM:158800
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Microcephaly, Tremor, Rigidity, Hyper...	OMIM:261640
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykinesia, Depression, Limb...	ORPHA:71517
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia	ORPHA:371
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Verte...	OMIM:272460
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Epispadias, Conical incisor, Microdontia, Neonatal short-limb sh...	ORPHA:289
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy...	OMIM:112350
Amed Syndrome, Digenic	Hypoplasia of the uterus, Long thumb, Short stature, Adrenal hypoplasia	OMIM:619151
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Flat occiput, Micrognathia, Thyroid lymphangiectasia, Abd...	OMIM:235255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feed...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube feed...	ORPHA:352665
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Gastroesopha...	ORPHA:2896
Acrofrontofacionasal Dysostosis	Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Brach...	ORPHA:1784
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Hepatomegaly, Short femur, Microcephaly, Orofacial cleft, Feeding difficulties, Gr...	ORPHA:17
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Anteverted nares, Cutis marmorata, Protruding tongue, Cryptorchidism, Retrognathia, Alveolar ridg...	OMIM:612938
Three M Syndrome 3	Prominent nasal tip, Frontal bossing, Anteverted nares, Small for gestational age, Short stature,...	OMIM:614205
Camurati-Engelmann Disease	Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis...	ORPHA:1328
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Missing ribs, Hypopl...	OMIM:184705
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski sign, Abnormal pyramidal sign...	OMIM:617225
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Antever...	OMIM:311900
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Intellectual Developmental Disorder, X-Linked 104	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Wide nasal bridge, Spasticity	OMIM:300983
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Underdeveloped nasal alae, Microcephaly, Microdontia, Disproportionat...	ORPHA:2637
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Recurrent patellar di...	OMIM:619143
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Osteopenia, Hypergonadotropic ...	ORPHA:91
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th...	OMIM:613026
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Microcephaly, Cryptorchidism, Gastrointestinal dysmotility, Brachycephaly, Genu valg...	OMIM:617798
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finge...	ORPHA:79445
Kniest Dysplasia	Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collagen, Genu varu...	OMIM:156550
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Feeding difficulties ...	OMIM:610759
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Cutane...	OMIM:211380
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Telangiectasia of the skin, Camptodactyly of finger, Micromelia...	ORPHA:2176
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb...	OMIM:617475
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia	Skeletal muscle atrophy, Myotonia	OMIM:254950
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Dementia, Tongue fascicula...	OMIM:159950
3C Syndrome	Micrognathia, Feeding difficulties in infancy, High, narrow palate, Hemivertebrae, Orofacial clef...	ORPHA:7
Saccharopinuria	Tremor, Spastic diplegia, Hypercystinemia, Gait ataxia, Hyperammonemia, Cognitive impairment, Abn...	ORPHA:3124
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati...	ORPHA:562
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u...	ORPHA:2232
Phelan-Mcdermid Syndrome	Micrognathia, Microcephaly, Dolichocephaly, Bulbous nose, Dental malocclusion, 2-3 toe syndactyly...	OMIM:606232
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Wide nose, Anteverted nares, Depressed nasal bridge, Sagittal craniosyn...	OMIM:618027
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Congenital Insensitivity To Pain With Severe Intellectual Disability	Small for gestational age, Rocker bottom foot, Micrognathia, Prominent nose, Nasogastric tube fee...	ORPHA:453510
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Short neck, Bifid nasal tip, Vertebral clefting, Depr...	OMIM:616854
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Abruzzo-Erickson Syndrome	Toe syndactyly, Short stature, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger...	ORPHA:921
Alg6-Cdg	Jaundice, Shortening of all distal phalanges of the fingers, Feeding difficulties, Macroglossia, ...	ORPHA:79320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Anteverted nares, Gastroparesis, Wide nasal bridge, Neonatal death	OMIM:614052
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Short toe, Cryptorchidism...	ORPHA:3085
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Myotonic Dystrophy 1	Feeding difficulties in infancy, Facial diplegia, Myotonia, Dysphagia	OMIM:160900
Dpm1-Cdg	Flat occiput, Tented upper lip vermilion, Micrognathia, High, narrow palate, Knee flexion contrac...	ORPHA:79322
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Anteverted nares, Choanal atresia, Craniosynostosis,...	ORPHA:561
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Broad nasal tip, Microcephaly, Cryptorchidism, 2-3 toe syndactyly, Brachycephaly...	ORPHA:3306
Renal And Mullerian Duct Hypoplasia	Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth ret...	OMIM:266810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Flat occiput, Broad nasal tip, Micrognathia, Abdominal di...	ORPHA:1655
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short stature, Camptodactyly of finger, Talipes, Micrognathia, Growth delay, Narrow mouth, Intrau...	ORPHA:1495
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema...	ORPHA:3464
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Brachydactyly	OMIM:618879
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Hemivertebrae, Brachycepha...	ORPHA:96121
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Prominent nose, Microcephaly, Abnormal carpal morphology, Obesity, Madelung deform...	ORPHA:319675
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin...	OMIM:224400
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mouth, Delayed eruption of pe...	OMIM:618506
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Spastic dys...	ORPHA:240094
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate shor...	OMIM:277600
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Small hand, Bruxism, Dysphagia, Short foot, Ankle...	OMIM:617435
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Choanal stenosis, High palate, Mi...	OMIM:259775
Myotonia With Skeletal Abnormalities And Mental Retardation	Skeletal muscle hypertrophy, Myotonia, Firm muscles	OMIM:255710
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Microcephaly, Hypoplasi...	ORPHA:178303
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Elbow contracture, Abdominal distention, Feeding difficulties, Percussion myotonia, Gastroesophag...	OMIM:620275
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Pr...	ORPHA:401935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypospadias, Depressed nasal bridge, Cryptorchidism, Polydactyly, Intrauterine growth retardation...	OMIM:616910
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Oral-pharyngeal dysphagia, Mi...	ORPHA:480907
Phocomelia, Schinzel Type	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligodactyly, Radi...	ORPHA:2879
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Short stature, Congenital hepatic fibrosis, Cryptorchidism, Obe...	ORPHA:2377
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Osteoporosis, ...	ORPHA:254892
Tarp Syndrome	Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger...	ORPHA:2886
Pelger-Huet Anomaly	Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the dentition...	OMIM:169400
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr...	ORPHA:70595
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Microcephaly, Crypt...	OMIM:618950
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted l...	ORPHA:2429
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Short stature, M...	OMIM:145420
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat...	OMIM:614753
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, Gastroesophageal reflux, High palate, Short p...	OMIM:619312
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Pectus excavatum, A...	OMIM:618162
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Coxa vara, Pectus carinatum, Halberd-shaped pelvis, Narrow g...	OMIM:184252
Neuralgic Amyotrophy	Scapular winging, Short stature, Cleft palate, Narrow mouth, Sprengel anomaly, Acrocyanosis	ORPHA:2901
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Fe...	ORPHA:87
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular v...	OMIM:271640
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Poor appetite, Micrognathia, Feeding difficulties in infancy, High, narrow palat...	ORPHA:96182
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, High palate, Narrow chest, Microdontia, Premature loss of teeth, Decre...	ORPHA:50814
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral se...	ORPHA:251014
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Pectus carinatum, Downturned corners of mouth, ...	ORPHA:955
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Relative macrocephaly, Prominent fingertip pads, Frontal bossing, Thin upper lip vermilion, Small...	ORPHA:231137
Ollier Disease	Micromelia, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspondyly, ...	ORPHA:296
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Miller-Dieker Syndrome	Sacral dimple, Anteverted nares, Growth delay, Abnormal upper lip morphology, Clinodactyly of the...	ORPHA:531
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Coxoauricular Syndrome	Abnormal femur morphology, Micromelia	ORPHA:1508
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Hypoplasia of penis, Small scrotum, Prominent nasal bridge, Camptodactyly of finge...	ORPHA:2083
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
2Q37 Microdeletion Syndrome	Downturned corners of mouth, Short palm, Clinodactyly of the 5th finger, Broad columella, Bilater...	ORPHA:1001
Brachydactyly, Type E1	Short metacarpal, Moderately short stature, Short metatarsal, Straight clavicles, Short clavicles...	OMIM:113300
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression...	OMIM:616795
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact...	OMIM:270400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Downturned corners of mouth, Abnormal st...	ORPHA:487796
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Rhizomelia, Short stature, Short iliac bones, Metaphyseal...	OMIM:614376
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Xylt1-Cdg	Relative macrocephaly, Pes planus, Hepatomegaly, Short stature, Coxa valga, Microcephaly, Flared ...	ORPHA:370930
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Camptodactyly of finger, Prominent nasal bridge, Microce...	OMIM:148820
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Short philtru...	ORPHA:166108
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Plagiocephaly, Tapered finger	OMIM:618725
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Gastroparesis, Centrall...	OMIM:607459
Wiedemann-Steiner Syndrome	Micrognathia, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, ...	OMIM:605130
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Short stature, Camptodactyly of finger, Micrognathia, Abnormalit...	ORPHA:1794
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal...	ORPHA:2590
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Hemiatrophy, Dystonia, Difficulty wa...	ORPHA:306669
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circulating very long-chai...	OMIM:617916
Prader-Willi Syndrome	Narrow nasal bridge, Osteopenia, Gastroparesis, Nasogastric tube feeding in infancy, Xerostomia, ...	ORPHA:739
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Micromelia	ORPHA:2772
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Hammertoe, Hypertonia, Steppage gait, Mental deterioration, Spasticity	OMIM:609260
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co...	OMIM:615157
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas	OMIM:103200
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Feeding difficulties in infancy, Downt...	ORPHA:261323
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Wide nasal bridge, F...	OMIM:218000
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Dolichocephaly, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clino...	ORPHA:166277
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Telangiectases of the chee...	ORPHA:576
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Gastroparesis, Abdominal ...	ORPHA:85443
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi...	OMIM:613670
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Tremor, Rigidity, Dysphagia, Choreoathetosis, Gait di...	ORPHA:391417
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral...	ORPHA:2710
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel...	OMIM:612953
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Short stature, Kyphoscoliosis, Microcephaly, Hip dislocation, Wide...	OMIM:618005
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl...	OMIM:264270
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o...	ORPHA:1895
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Tibial bowing, Femoral bowing, Gastroesophageal reflux, Narrow chest, Neonatal death, Lumbar hype...	OMIM:616482
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Frontal bossing, Short stature, Craniosynostosis, Mi...	ORPHA:166035
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Cryp...	ORPHA:2588
Hereditary Bullous Dystrophy, Macular Type	Turricephaly, Short stature, Microcephaly, Tapered finger, Cryptorchidism, Heart murmur, Growth d...	ORPHA:1867
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Feingold Syndrome	Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Short stature, Micrognat...	ORPHA:1305
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Short nose...	ORPHA:1389
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Frontal bossing, Thin upper lip ver...	OMIM:309520
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti...	OMIM:620157
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Myotonia	OMIM:170400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Temtamy Syndrome	Aortic regurgitation, Pes planus, Frontal bossing, Dental crowding, Micrognathia, Hip dislocation...	OMIM:218340
Lowry-Wood Syndrome	Epiphyseal dysplasia, Short stature, Microcephaly, Elbow dislocation, Coxa vara, Irregular epiphy...	ORPHA:1824
Al Kaissi Syndrome	Pes planus, Thin upper lip vermilion, Depressed nasal bridge, Short stature, Macrodontia, Broad n...	OMIM:617694
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ...	ORPHA:1514
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Hydatidiform Mole	Hyperthyroidism, Menometrorrhagia, Enlarged uterus	ORPHA:99927
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Microcephaly, Tremor, Chorea, Babinski sign, Abnormal pyrami...	ORPHA:397946
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Failure to thrive in infancy,...	OMIM:618975
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Failure to thrive, Anteverted nares, Short stature, Cleft upper lip, Po...	OMIM:243310
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Short stature, Vertebral wedging...	OMIM:610967
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d...	OMIM:613662
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma...	OMIM:601356
Gracile Bone Dysplasia	Failure to thrive, Short stature, Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypo...	OMIM:602361
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose, Delayed puberty	ORPHA:2598
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Postnatal growth...	ORPHA:93324
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Postnatal growth retardation...	OMIM:313400
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Pes planus, Thin upper lip vermilion, Short femur, Depressed nasal bri...	OMIM:300990
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e...	ORPHA:485
Pentasomy X	Camptodactyly of finger, Micrognathia, Small hand, Short foot, Plagiocephaly, Radioulnar synostos...	ORPHA:11
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Recombinant Chromosome 8 Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger, Antever...	OMIM:179613
Silver-Russell Syndrome Due To 11P15 Microduplication	Relative macrocephaly, Small for gestational age, Short stature, Postnatal growth retardation, Se...	ORPHA:231144
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Relative macrocephaly, Frontal bossing, Depressed nasal bridge, Dental crowding, Kyphoscoliosis, ...	ORPHA:397709
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short stature, Short metatar...	OMIM:612462
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Dysphagia, Choreoa...	OMIM:233910
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Short stature, Craniosynostosis, Cryptorchidism, Acces...	ORPHA:503
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft pala...	OMIM:616462
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Localized Scleroderma	Abnormality of the nose, Abnormality of the dentition, Raynaud phenomenon, Erythema, Dental maloc...	ORPHA:90289
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia	OMIM:619651
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Osteopenia, Relative macrocephaly, Frontal bossing, Single transverse palm...	ORPHA:2324
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate...	OMIM:246560
Short Syndrome	Severe short stature, Abnormal dental enamel morphology, Poor appetite, Abnormality of the dentit...	ORPHA:3163
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Nasogastric tube...	ORPHA:221120
Macs Syndrome	Irregular dentition, Single transverse palmar crease, Micrognathia, High palate, Decreased body w...	OMIM:613075
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Short stature, Cryptorchidism, Narrow palate, Micropenis, Short upper lip,...	ORPHA:364028
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Brachy...	OMIM:156200
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infancy,...	ORPHA:177907
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph...	ORPHA:93346
Perlman Syndrome	Hypoplasia of penis, Anteverted nares, Micrognathia, Cryptorchidism, High, narrow palate, Open mo...	ORPHA:2849
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrod...	ORPHA:2916
Martin-Probst Syndrome	Bifid scrotum, Short stature, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental mal...	OMIM:300519
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rigidity, Bra...	ORPHA:306682
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in infancy, Depressed nasal ridge, ...	ORPHA:828
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Hypogonadotropic hypogonadism, Poor appetite, Abdominal pain, Cache...	ORPHA:298
Trisomy 9P	Bilateral single transverse palmar creases, Dental crowding, Microcephaly, Abnormal nasal morphol...	ORPHA:236
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va...	ORPHA:3107
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic no...	OMIM:312870
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Bilateral cryptorchidism, Hip dysplasia, Dystonia, Macrodontia of permanent ...	ORPHA:466722
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand po...	ORPHA:79113
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Silver-Russell Syndrome 3	Relative macrocephaly, Syndactyly, Frontal bossing, Small for gestational age, Short stature, Uni...	OMIM:616489
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Peripheral Dysostosis	Clinodactyly of the 5th finger, Short stature, Cone-shaped epiphyses of the phalanges of the hand...	ORPHA:1795
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Distal Xq28 Microduplication Syndrome	Short stature, Epistaxis, Short lingual frenulum, Broad nasal tip, Metatarsus adductus, Hypoplasi...	ORPHA:293939
Kinsship Syndrome	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High pal...	OMIM:105650
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Abno...	ORPHA:2636
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot olig...	OMIM:276820
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Short stature, Craniosynostosis, Microg...	OMIM:250410
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Short stature, Broad nasal tip, Long nose, Wide nasal bridge, ...	OMIM:619995
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine...	ORPHA:364577
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal form of...	ORPHA:2067
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Short stat...	ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Small for gestational age, Neonatal death, Brachydactyly	OMIM:610498
Cranioectodermal Dysplasia 3	Frontal bossing, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly,...	OMIM:614099
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short stature, Genu recurvatum, Reduced bone mineral density, Downturned corner...	ORPHA:1185
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Osteopenia, Proximal placement of thumb, Brachycephaly, Short stature, Tho...	OMIM:212066
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Cyanosis, Abdominal pain, Splenic rupture, Clubbing of fi...	ORPHA:335
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Lead Poisoning	Anorexia, Abnormal T cell morphology, Vomiting, Decreased male libido, Nausea, Abdominal pain, Cr...	ORPHA:330015
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Abnormality of the hand...	ORPHA:369891
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Mitral regurgit...	ORPHA:3238
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Oligodontia, F...	OMIM:305600
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Micrognathia, Aplasia/Hypoplasia of...	ORPHA:1234
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Failure to thrive, Single transverse palmar crease, Broad nasal tip, Overw...	ORPHA:391372
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Narrow chest, Scoliosis, Hepatic cysts, Brachydactyly	OMIM:613819
Fanconi Anemia, Complementation Group W	Microcephaly, Absent thumb, Hypoplasia of the radius, Growth delay, Polysplenia, Abnormal radial ...	OMIM:617784
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Osteopenia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va...	OMIM:269300
Fatty Acyl-Coa Reductase 1 Deficiency	Thin upper lip vermilion, Depressed nasal bridge, Short stature, Growth delay, Long philtrum, Sho...	ORPHA:438178
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Kyphosis, Wi...	OMIM:259420
Mirage Syndrome	Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Achalasia, Short stature, Cryptorch...	OMIM:617053
Hypokalemic Periodic Paralysis	Myotonia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Frontal bossing, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of t...	ORPHA:3082
Lowry-Maclean Syndrome	Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na...	ORPHA:2409
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist...	ORPHA:73230
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Anteverted nares, Short stature, Progeroid facial appearance, Broad nas...	OMIM:617763
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ...	OMIM:620107
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Proximal Myotonic Myopathy	Myotonia	ORPHA:606
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Small hand, Truncal ataxia, Dysmetria, Gait ataxia, Short foot,...	OMIM:610185
Peho-Like Syndrome	Short nose, Retrognathia, Open mouth, Tapered finger	OMIM:617507
Primary Pulmonary Hypoplasia	Cyanosis, Microcephaly, Micrognathia, Patellar hypoplasia, Cleft palate, Hypoxemia, Intrauterine ...	ORPHA:2257
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Pes cavus, Short nose, Short stature	OMIM:245570
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Microcephaly, Depressed nasa...	OMIM:616038
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger, Microcephaly, Feeding difficulties, Dy...	OMIM:618367
Familial Visceral Myopathy	Anteverted nares, Arachnodactyly, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, ...	ORPHA:2604
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Anteverted nares, Abnormal dental enamel morpholo...	ORPHA:582
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep...	ORPHA:397715
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification, Short lower limbs	OMIM:259440
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties...	ORPHA:3260
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Microcephaly, Chronic constipation, Narrow mouth, Short nos...	OMIM:616459
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism...	OMIM:603457
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Bowel incontinence	OMIM:618877
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia...	OMIM:613390
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Microc...	OMIM:312080
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Alagille Syndrome 1	Hypoplasia of the ulna, Failure to thrive, Frontal bossing, Depressed nasal bridge, Hepatocellula...	OMIM:118450
Spondylocostal Dysostosis 1, Autosomal Recessive	Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Kyphoscoliosis, Abdominal...	OMIM:277300
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 to...	OMIM:609625
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Large for gestational age, Short pr...	OMIM:616638
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Dolichocephaly, Clinodactyly of the 5th finger, Spren...	ORPHA:2475
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Bowing of the long bones, Failure to thrive, Abdominal distention, Rick...	ORPHA:2088
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti...	ORPHA:740
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormality of the dentitio...	ORPHA:1657
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ...	OMIM:119800
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Met...	OMIM:263210
Achard Syndrome	Broad skull, Arachnodactyly, Brachycephaly, Micrognathia	OMIM:100700
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Nasogastric tube feeding in infancy,...	ORPHA:251061
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Bulbous...	OMIM:236500
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, I...	OMIM:614298
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Single transverse palmar crease, Persistenc...	OMIM:610253
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Trisomy 20P	Micrognathia, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mineral density,...	ORPHA:261318
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of...	OMIM:613951
Radio-Renal Syndrome	Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, High, narrow palate, Hypo...	ORPHA:3015
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ...	ORPHA:103907
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Marshall Syndrome	Frontal bossing, Thick upper lip vermilion, Anteverted nares, Depressed nasal bridge, Short statu...	ORPHA:560
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Midface...	ORPHA:93258
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, Feeding difficulties in infancy, High, narrow pal...	OMIM:163950
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Coxa valga, Protruding tongue, Narrow mouth, Splenomegaly, Gingival overgrowth, Hyp...	OMIM:230600
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Dysphagia, Short foot, Chronic consti...	OMIM:275900
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Macrocephal...	OMIM:109120
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement of thumb, Narr...	OMIM:620370
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Micrognathia, Abnormal foot ...	ORPHA:85184
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Downturned corners of mouth, Pectus carinatum, Clinodactyly of the 5th ...	ORPHA:488642
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi...	OMIM:300623
Carey-Fineman-Ziter Syndrome	Anteverted nares, Short stature, Aplasia/Hypoplasia of the tongue, Micrognathia, Microcephaly, Ap...	ORPHA:1358
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level	OMIM:612126
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Normokalemic Periodic Paralysis	Percussion myotonia	OMIM:170600
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Reduced b...	ORPHA:2911
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Down Syndrome	Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Clinodactyly of the 5th finger...	ORPHA:870
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, High, nar...	OMIM:122470
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Aicardi-Goutieres Syndrome 6	Microcephaly, Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Craniosynosto...	ORPHA:457193
Thomsen And Becker Disease	Myotonia	ORPHA:614
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N...	OMIM:612651
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognathia, Wide nasal bridge, ...	ORPHA:1908
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Palmar pits, Plantar pits, Hemivertebrae, Abnormal sternum morphology, Par...	OMIM:109400
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Thin upper lip vermilion, Short stature, Prominent nasal bridge, Craniosynostosis, Br...	OMIM:618050
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenter...	OMIM:619445
Waardenburg Syndrome Type 3	Narrow nasal bridge, Tented upper lip vermilion, Camptodactyly of finger, Microcephaly, Abnormal ...	ORPHA:896
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S...	ORPHA:1772
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal ri...	ORPHA:3035
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Campomelia, Cumming Type	Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appearanc...	ORPHA:1318
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemi...	ORPHA:1436
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in i...	OMIM:257200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Unilateral radial aplasia, Feeding difficulties in infancy, Aplasi...	ORPHA:476126
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb fasciculation...	ORPHA:90117
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Short nose, Micromelia, Adducted thumb	ORPHA:50810
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Myotonia, Prominent nose	ORPHA:391307
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Abnormal...	ORPHA:73
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Centrally nucleated skeletal muscle fibers, Pyloric stenosis, Ileus, Muscle mounding,...	OMIM:613327
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Short palm...	ORPHA:93271
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Cln5 Disease	Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to...	ORPHA:228360
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchi...	OMIM:602535
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Small for gestational age, Short stature, Microcephaly, Hypoplasia of the ...	ORPHA:93950
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Increased bone minera...	ORPHA:166119
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign...	OMIM:300055
Melnick-Needles Syndrome	Frontal bossing, Bowing of the long bones, Craniofacial hyperostosis, Coxa valga, Micrognathia, S...	ORPHA:2484
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Smooth philtrum, Delayed eruption of teeth, Mild postnatal growth retardation, Thyroid lymphangie...	OMIM:235510
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Clinodactyly, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, Iron defi...	ORPHA:93315
20Q11.2 Microduplication Syndrome	Bifid scrotum, Tented upper lip vermilion, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short stature, Cachexia, S...	ORPHA:884
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Fetal Hydantoin Syndrome	Bifid scrotum, Short stature, Cryptorchidism, Depressed nasal ridge, Cleft palate, Wide mouth, Ev...	ORPHA:1912
Cinca Syndrome	Nausea and vomiting, Frontal bossing, Purpura, Hepatomegaly, Abnormality of neutrophils, Splenome...	ORPHA:1451
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea...	OMIM:259730
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Growth delay, Clinodactyly...	OMIM:244600
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parapare...	OMIM:607483
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short stature, Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Desmosterolosis	Micromelia, Micrognathia, Bifid uvula, Increased bone mineral density, Depressed nasal bridge, Na...	ORPHA:35107
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Wide an...	OMIM:225410
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, N...	OMIM:613610
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Thic...	OMIM:602152
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in infan...	ORPHA:353277
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Limited elbow movem...	OMIM:617809
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly...	ORPHA:110
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Prominent nasal bridge, Proportionate short stature, Precocious puberty, Short toe, O...	OMIM:619269
Genitopalatocardiac Syndrome	Micrognathia, Microcephaly, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Abnormal...	ORPHA:2075
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Handgrip myotonia, Anteverted nares, Facial hypotonia, Underdeveloped nasal alae, Broad nasal tip...	ORPHA:438216
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Increased sku...	ORPHA:1422
Neuroferritinopathy	Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subco...	ORPHA:157846
Ellis-Van Creveld Syndrome	Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb...	OMIM:225500
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spastic...	OMIM:618718
Baker-Gordon Syndrome	Joint laxity, Thin upper lip vermilion, Abnormal foot morphology, Scoliosis, Prominent nasal tip,...	OMIM:618218
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Vertebral segmentation defect, High p...	ORPHA:263508
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Feeding difficulties in infancy, Osteopenia, Gastroparesis, Osteoporosis	ORPHA:98754
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation tes...	OMIM:610829
Cockayne Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Hepatomegaly, Abnormal dental morpholog...	ORPHA:191
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Depression, Hypertonia, Hyp...	OMIM:619738
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Kyphoscoliosis,...	OMIM:614856
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism...	OMIM:619859
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Frontal bossing, Short stature, Osteomalacia, Bowing of the legs, E...	OMIM:307800
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of...	OMIM:101400
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, High palate, Anteverted nares, Depres...	OMIM:608156
Ivic Syndrome	Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th...	ORPHA:2307
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low...	OMIM:619854
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Thoracic kyphosis, Short 4th metacarpal, Broad thumb, Sho...	OMIM:619638
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Feeding difficulties in infancy, Osteopenia, Gastroparesis, Osteoporosis	ORPHA:98793
Silver-Russell Syndrome	Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho...	ORPHA:813
Myoectodermal Gonadal Dysgenesis Syndrome	Short stature, Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thumb,...	OMIM:618419
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Feeding difficulties in infancy, Osteopenia, Gastroparesis, Osteoporosis	ORPHA:177904
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin...	ORPHA:3352
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Narrow mouth, Short neck, Wide nasal bridge, Narrow palate, Hypopla...	OMIM:620250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Feeding difficulties in infancy, Osteopenia, Gastroparesis, Osteoporosis	ORPHA:177901
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Brachydactyly	OMIM:248300
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Short stature, Brachydactyly	OMIM:610023
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Imp...	ORPHA:240071
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Abnormality of the dentition, Cryptorchidism, Postaxial hand polyda...	ORPHA:1702
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexten...	ORPHA:544503
Intellectual Disability-Strabismus Syndrome	Micrognathia, Prominent nose, Short neck, High palate, Micropenis, Depressed nasal bridge, Hyposp...	ORPHA:363528
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Cutis marmorata, Portal hypertension, Splenomegaly, Foot oli...	OMIM:616589
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Pes cavus, Tented upper lip vermilion, Depressed nasal bridge, Short stature, Exaggerated cupid's...	OMIM:619833
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Feeding difficulties in infancy, Aplasia of the pe...	ORPHA:570
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Intrauterine growth retardation, ...	ORPHA:79255
Craniofrontonasal Syndrome	Brachycephaly, Sprengel anomaly, Clinodactyly of the 5th finger, Broad hallux, Short stature, Cle...	OMIM:304110
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L...	OMIM:253200
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Brachycephaly, Downturned corners of mouth, Gastroesophageal...	OMIM:616364
Gerstmann-Straussler Disease	Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depr...	OMIM:137440
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten...	OMIM:615716
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Gastroesophageal reflux, Broad hallux, Short stature, Cryptorchidism, Supernumer...	ORPHA:353281
Zttk Syndrome	Hypoplasia of the maxilla, Feeding difficulties in infancy, Hemivertebrae, Downturned corners of ...	OMIM:617140
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Microcephaly, Chorea, Cogwheel rigidity, Bradykinesia, Myoc...	OMIM:619725
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Irregular dentition, Short stature, Micrognathia, Hypoplasia of the maxil...	ORPHA:314679
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Distal clavicular thinning, Micromelia, Microcephaly, Bel...	OMIM:600092
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Malar prominence, Micrognathia, Long nose, Cone-shaped epiphysis, Palmoplantar ke...	ORPHA:2824
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Shor...	OMIM:252600
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Coxa valga, Microcephaly, Brachycephaly, Hypoplastic vertebral b...	ORPHA:2163
Intellectual Developmental Disorder, X-Linked 30	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Short stature, High palate, P...	OMIM:300558
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar...	ORPHA:2412
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Pes planus, Wide nose, Broad hallux, Arachnodactyly, Prominent nasal bridge, Prominent nose, Cubi...	OMIM:601552
Gorlin-Chaudhry-Moss Syndrome	Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology,...	ORPHA:2095
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Abnormal dental morphology, Malar prominence, Hyperl...	ORPHA:2522
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation	ORPHA:95719
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis...	ORPHA:83
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Overlapping toe, Pr...	OMIM:618316
Hydrolethalus	Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the sense of...	ORPHA:2189
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Spastic Paraplegia 79B, Autosomal Recessive	Myotonia, Flexion contracture	OMIM:615491
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Hyperkalemic Periodic Paralysis	Myotonia	OMIM:170500
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cutis marmorata, Talipes, Portal h...	ORPHA:974
Fanconi Anemia, Complementation Group I	Short stature, Absent thumb, Microcephaly, Short thumb, Hypoplasia of the radius, Neutropenia, Fu...	OMIM:609053
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Equinovarus deformity,...	ORPHA:3078
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Short stature,...	OMIM:614800
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Long thorax, Gastro...	OMIM:616268
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphal...	ORPHA:2547
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea...	OMIM:613443
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Long nose, Conical tooth, Oligodontia, Hig...	OMIM:612313
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, High palate, Short palm, Microdo...	OMIM:268400
Myotonic Dystrophy 2	Handgrip myotonia, Myotonia, Generalized amyotrophy, Weakness of facial musculature, Type 2 muscl...	OMIM:602668
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi...	OMIM:202010
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Orofaciodigital Syndrome Type 1	Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t...	ORPHA:2750
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Choanal atresia, Mic...	OMIM:156400
Developmental And Epileptic Encephalopathy 95	Short digit, Short fourth metatarsal, Hepatomegaly, Single transverse palmar crease, Microcephaly...	OMIM:618143
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Frontal bossing, Small for gestational age, Dysmenorrhea, Micr...	ORPHA:397590
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Microcephaly, Tremor, Inability to walk, Wide nasal bridge, Hypertonia, Attention deficit...	OMIM:619556
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility...	ORPHA:572333
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Rhizomelia, Postaxial polydactyly, Kyphoscoliosis, Postnatal growth retardation,...	OMIM:302960
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Ecchymosis...	ORPHA:464329
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Alazami Syndrome	Wide nose, Cutis marmorata, Postnatal growth retardation, Mild microcephaly, Wide mouth, Slender ...	ORPHA:319671
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Progressive Supranuclear Palsy	Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Depression, Blepharospasm, Bradykinesia,...	ORPHA:683
Classic Phenylketonuria	Microcephaly, Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, At...	ORPHA:79254
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Lumbar hemivertebrae, Long ...	OMIM:190440
Athyreosis	Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipation	ORPHA:95713
Fetal Trimethadione Syndrome	Depressed nasal bridge, Hypospadias, Micrognathia, High palate, Scoliosis, Ambiguous genitalia, I...	ORPHA:1913
Hypocalcemic Vitamin D-Resistant Rickets	Frontal bossing, Short stature, Osteomalacia, Premature loss of primary teeth, Dolichocephaly, Ab...	ORPHA:93160
Cardiospondylocarpofacial Syndrome	Joint laxity, Anteverted nares, Gastroparesis, Congenital diaphragmatic hernia, Tarsal synostosis...	OMIM:157800
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Abdominal pain, Postnatal growth retardation, Abdominal distent...	OMIM:212750
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia	OMIM:617914
Ovarian Fibroma	Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Charge Syndrome	Abnormal palmar dermatoglyphics, Micrognathia, Hemivertebrae, Hand monodactyly, Aplasia/Hypoplasi...	OMIM:214800
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Donohue Syndrome	Postnatal growth retardation, Abdominal distention, Thick lower lip vermilion, Gingival overgrowt...	OMIM:246200
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Microcephaly	OMIM:278780
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Alg8-Cdg	Small for gestational age, Abnormality of subcutaneous fat tissue, Thrombocytopenia, Diarrhea, Fe...	ORPHA:79325
Intellectual Developmental Disorder, Autosomal Recessive 68	Pes planus, Small for gestational age, Microcephaly, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd...	OMIM:129400
Rin2 Syndrome	Irregular dentition, Pes planus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism,...	ORPHA:217335
Mosaic Trisomy 14	Frontal bossing, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Abnormal rib morpho...	ORPHA:1703
Pulmonary Arteriovenous Malformation	Cyanosis, Liver abscess, Epistaxis, Myocardial infarction, Transient ischemic attack, Clubbing, H...	ORPHA:2038
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Feeding difficulties in infancy, Kyphosis, Microcephaly, Cleft lip, Asplenia, Crypt...	OMIM:619123
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi...	OMIM:300554
Choanal Atresia	Cyanosis, Craniosynostosis, Feeding difficulties, Nasal congestion, Polydactyly, Chronic sinusitis	ORPHA:137914
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Craniosynostosis, Microcep...	ORPHA:808
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Turricephaly, Iliac crest serration, Abnormal scapula morphology, Metaphyseal c...	ORPHA:93317
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Abdominal symptom, Short metacarpal, Short fifth metatarsal, Depressed...	ORPHA:79444
Episodic Ataxia, Type 2	Myotonia	OMIM:108500
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Williams Syndrome	Osteopenia, Myocardial infarction, Micrognathia, Hypogonadotropic hypogonadism, Abnormal form of ...	ORPHA:904
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow movement, P...	OMIM:265050
Cartilage-Hair Hypoplasia	Metaphyseal widening, Brachycephaly, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short ...	OMIM:250250
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Short stature, Pr...	ORPHA:1225
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus...	ORPHA:64755
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, ...	OMIM:219200
Dyschondrosteosis-Nephritis Syndrome	Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius, Micromelia	ORPHA:1765
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal occipital bone morphology, Abnormal tibia morphology, Abno...	ORPHA:249
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Micrognathi...	OMIM:261540
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta...	OMIM:610017
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Tented upper lip vermilion, Dental crowding, Joint hypermobility, Macroorc...	OMIM:300143
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Small Bowel Atresia	Short stature, Abdominal distention, Feeding difficulties, Vomiting, Intrauterine growth retardat...	ORPHA:1201
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short thorax, Abnormal rib morphology, Prominent occiput, Posterior rib fusion, Spi...	ORPHA:1797
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment	OMIM:603472
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Arachnodactyly, Depres...	OMIM:612513
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Cole-Carpenter Syndrome	Frontal bossing, Crumpled long bones, Bowing of the long bones, Turricephaly, Micrognathia, Abnor...	ORPHA:2050
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Microcephaly, Tremor, Rigidity, Impul...	ORPHA:442835
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Rec...	ORPHA:2399
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Meier-Gorlin Syndrome 6	Microretrognathia, Severe short stature, Anteverted nares, Depressed nasal bridge, Sandal gap, Un...	OMIM:616835
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo...	ORPHA:139485
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Progressive psychom...	ORPHA:363400
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Midface retrusion, Frontal bossing, Turricephaly, Short stature, P...	OMIM:616294
Weill-Marchesani Syndrome	Short stature, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Brach...	ORPHA:3449
Pseudohypoparathyroidism Type 1A	Abdominal symptom, Short metatarsal, Reduced bone mineral density, Broad distal phalanx of the th...	ORPHA:79443
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Microcephaly, Feeding difficulties in infancy, Cryptorc...	ORPHA:500159
Chitayat Syndrome	Hallux valgus, Depressed nasal bridge, Anteverted nares, Short stature, Pectus excavatum, Short c...	OMIM:617180
Warburg Micro Syndrome 3	Small scrotum, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Hypoplastic labia mino...	OMIM:614222
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Brachycephaly, Oligodontia, High palate, Short philtrum, Long philtrum, Depressed n...	OMIM:309590
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Obesity, P...	OMIM:615986
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Abnormality of the nose, ...	ORPHA:1708
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Mucopolysaccharidosis Type 1	Sinusitis, Abnormal form of the vertebral bodies, Enlarged thorax, Widely spaced teeth, Microdont...	ORPHA:579
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supern...	OMIM:604757
Craniofacioskeletal Syndrome	Barrel-shaped chest, Pes planus, Thin upper lip vermilion, Absent gallbladder, Short stature, Cho...	OMIM:300712
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Short stature, Hypergonadotropic hypogonadism, Cerebral hemorrhage, Postnatal growth r...	OMIM:300845
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch...	OMIM:219000
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Cryptorchidism, Positional foot deformity, Hip dysplasia, Sc...	ORPHA:496790
Cooper-Jabs Syndrome	Frontal bossing, Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ...	ORPHA:1488
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Ataxia, Microcephaly, Tremor, Gait ataxia, Hypertonia, Myoclonus, Cli...	OMIM:619092
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Osteopetrosis, Autosomal Dominant 1	Thickened calvaria, Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morp...	OMIM:607634
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficu...	ORPHA:989
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Talipes, Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Gastro...	ORPHA:531151
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Cyanosis	ORPHA:91130
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Posterior plagiocephaly, Short ...	ORPHA:96190
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Wide...	ORPHA:2229
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Short stature, Bowed humerus, Kyphoscoliosis, Recurrent fractures, Dentinogenesis i...	OMIM:616507
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,...	ORPHA:36387
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap...	OMIM:168605
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ...	OMIM:300894
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Mesomelic short stature, Talipes equinovar...	OMIM:163400
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Depressed nasal ri...	ORPHA:99843
Sepsis In Premature Infants	Gastrointestinal dysmotility, Vomiting, Neutropenia, Hepatomegaly, Leukocytosis, Decreased liver ...	ORPHA:90051
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Linear Nevus Sebaceus Syndrome	Frontal bossing, Genu recurvatum, Prominent occiput, Plagiocephaly, Vertebral segmentation defect...	ORPHA:2612
Behr Syndrome	Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait disturbance, Progressive...	OMIM:210000
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Tip-toe gait, Gait di...	OMIM:302800
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Frontal bossing, Short stature, Hyperlordosis, Short thorax, Abnormal form of the vertebral bodie...	ORPHA:3218
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Broad-based gait, Microcephaly, Tremor, Spastic paraplegia, Babinski sign, Difficulty walking	ORPHA:477673
Thoracic Dysplasia-Hydrocephalus Syndrome	Short stature, Depressed nasal ridge, Narrow chest, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Short Stature, Microcephaly, And Endocrine Dysfunction	Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Microcephaly, Cryptorchidism, ...	OMIM:616541
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Postaxial polydactyly, Microcephaly, Tremor, Abnormal eating behavior, Poor coordination,...	ORPHA:544254
Double Outlet Right Ventricle	Tachycardia, Cyanosis, Depressed nasal bridge, Short stature, Abnormality of cartilage of externa...	ORPHA:3426
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Sanjad-Sakati Syndrome	Hypoplasia of penis, Depressed nasal bridge, Short stature, Abnormal dental enamel morphology, Mi...	ORPHA:2323
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligodontia, Gastroesophageal reflu...	ORPHA:2044
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Spastic pa...	ORPHA:329284
Branchioskeletogenital Syndrome	Mandibular prognathia, Upper limb peromelia, Hypoplasia of the maxilla, Brachycephaly, Downturned...	ORPHA:1299
Rauch-Steindl Syndrome	Hepatomegaly, Depressed nasal bridge, Short stature, Micrognathia, Prominent crus of helix, Micro...	OMIM:619695
Geleophysic Dysplasia 1	Osteopenia, Anteverted nares, Camptodactyly of finger, Short stature, Coxa valga, Joint stiffness...	OMIM:231050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Dental crowding, Narrow mouth, Long philtrum, Bilateral talipes equ...	OMIM:615539
Muenke Syndrome	Tarsal synostosis, Brachycephaly, Cone-shaped epiphysis, Short foot, Plagiocephaly, Short palm, C...	ORPHA:53271
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia, Dysphagia	OMIM:618637
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Dolichocephaly, Clinodactyl...	OMIM:167730
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Atrioventricular block, Abnormal form of the vertebral...	ORPHA:581
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Anteverted nares, Dental crowding, Underdeveloped nasal alae, Micrognathi...	OMIM:619005
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Tapered finger, Microcephaly, ...	OMIM:619680
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Downturned corners of mouth, Clitoral hyp...	ORPHA:398079
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Syndactyly, Short stature, Ha...	OMIM:311200
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Tapered...	OMIM:618430
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Nasogastric tube feeding in i...	OMIM:106260
Fg Syndrome 5	Depressed nasal bridge, Hypospadias, Anteverted nares, Diastema, Long philtrum, Short nose	OMIM:300581
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis, Progressive microcephaly	ORPHA:71277
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Thick lower...	OMIM:608624
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protru...	OMIM:300963
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Narrow nasal ridge, Micrognathia, Premature loss of teeth, Flexion contracture, ...	OMIM:608612
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Talipes equinovalgus, Hip dysplasia, Scoliosis, Short nose	OMIM:617183
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Micro Syndrome	Hypoplasia of penis, Anteverted nares, Short stature, Micrognathia, Joint stiffness, Cryptorchidi...	ORPHA:2510
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Congenital hip dislocation, Cyanosis, Kyphoscoliosis, Nasal regurgitation, Nar...	ORPHA:98914
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Anteverted nares, Down-sloping shoulders, Prominent nasal bri...	ORPHA:1974
Congenital Myasthenic Syndrome	Microretrognathia, Congenital hip dislocation, Cyanosis, Kyphoscoliosis, Nasal regurgitation, Nar...	ORPHA:590
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers...	OMIM:269150
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperactivity, Ataxia, Clonus, Elevated circulating creatine ...	OMIM:615673
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss, Acrocyanosis,...	ORPHA:2905
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Williams-Beuren Syndrome	Osteopenia, Feeding difficulties in infancy, Premature graying of hair, Gastroesophageal reflux, ...	OMIM:194050
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bo...	OMIM:601353
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:64753
Trisomy 12P	Short stature, Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of m...	ORPHA:1699
Aneurysm-Osteoarthritis Syndrome	Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Arachnodactyly, Osteoporosis, Sc...	ORPHA:284984
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Gait distu...	OMIM:168601
4H Leukodystrophy	Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of...	ORPHA:289494
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Pectus excavatum, Brachycephaly, Pectus carinatum, Plagiocephaly, Toe clinodactyl...	OMIM:619910
Trisomy X	Tremor, Depression, Attention deficit hyperactivity disorder, Cognitive impairment, Clinodactyly ...	ORPHA:3375
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Osteogenesis Imperfecta, Type Viii	Osteopenia, Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis,...	OMIM:610915
Dysosteosclerosis	Frontal bossing, Clavicular sclerosis, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, ...	OMIM:224300
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Microcep...	OMIM:609460
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum, Short n...	OMIM:608776
Adnp Syndrome	Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Brachycep...	ORPHA:404448
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Short metatarsal, Brachycephaly, Gastroesophageal reflux, High palate, Short met...	OMIM:617157
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, B...	OMIM:617022
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Gallop rhythm, Feeding difficulties in infancy, Co...	ORPHA:60041
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Genu valgum, Dysphagia, Progressive microcephaly	ORPHA:488627
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Micrognathia, Bilateral talipes equin...	OMIM:609465
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Clumsiness, Poor fine motor...	ORPHA:137898
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat...	OMIM:620114
Wolman Disease	Nausea and vomiting, Hepatomegaly, Cachexia, Bone-marrow foam cells, Abdominal distention, Spleno...	ORPHA:75233
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Brachycephaly, Patellar hypop...	ORPHA:1827
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Wide nose, Depressed nasal bridge, Anteverted nares, Hypospadias, Micrognathia, Sh...	OMIM:257300
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol...	ORPHA:233
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Long p...	ORPHA:2215
Relapsing Polychondritis	Pericarditis, Chondritis of pinna, Myocarditis, Erythema, Hepatitis, Large vessel vasculitis, Bip...	ORPHA:728
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at...	OMIM:183090
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Midface retru...	OMIM:618737
Congenital Disorder Of Glycosylation, Type Iu	Thin upper lip vermilion, Micrognathia, Congenital contracture, High palate, Scoliosis, Short nose	OMIM:615042
Hereditary Methemoglobinemia	Cyanosis, Small for gestational age, Microcephaly, Lip discoloration, Methemoglobinemia	ORPHA:621
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Secondary microcephaly, Feeding difficulties	OMIM:610992
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Patchy osteosclerosis, Microgn...	OMIM:241410
Asbestos Intoxication	Cyanosis, Right ventricular failure, Mediastinal lymphadenopathy, Hypoxemia, Clubbing of fingers,...	ORPHA:2302
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Idiopathic Camptocormia	Myositis, Myotonia, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber d...	ORPHA:1320
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humero...	OMIM:207410
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Bone cyst, Wide nas...	ORPHA:1752
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hyperextensibility at elbow, Depressed nasal bridge, Gastroparesis, Sagittal craniosynostosis, Hy...	ORPHA:500150
Bardet-Biedl Syndrome 1	Dental crowding, High, narrow palate, High palate, Hepatic fibrosis, Syndactyly, Obesity, Postaxi...	OMIM:209900
Marden-Walker Syndrome	Arachnodactyly, Anteverted nares, Micrognathia, Microcephaly, Kyphosis, Wide anterior fontanel, P...	OMIM:248700
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth retardation, Osteopor...	ORPHA:2169
Charcot-Marie-Tooth Disease And Deafness	Tremor, Split hand, Hammertoe, Steppage gait, Gait disturbance	OMIM:118300
Boomerang Dysplasia	Severe short stature, Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic na...	OMIM:112310
Schisis Association	Micromelia	ORPHA:63862
Spinocerebellar Ataxia, Autosomal Recessive 31	Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Dystonia, Clinodactyly of the 5th finger, Se...	OMIM:619422
Pallister-Hall Syndrome	Hemivertebrae, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, De...	OMIM:146510
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Oculodentodigital Dysplasia	Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur...	OMIM:164200
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Prominent nose, Microcephaly, Wide anterior fontanel...	OMIM:614886
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ...	OMIM:613870
Monosomy 22Q13.3	Nausea and vomiting, Dental crowding, Dolichocephaly, Bulbous nose, Dental malocclusion, Wide nas...	ORPHA:48652
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Widely spaced teeth, High palate, Narrow...	OMIM:266920
Fanconi Anemia, Complementation Group F	Short stature, Absent thumb, Microcephaly, Short thumb, Thrombocytopenia, Hypoplasia of the radiu...	OMIM:603467
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Talipes, Single transverse palmar crease, Microcephaly, Feeding diffic...	ORPHA:79243
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
3Q29 Microdeletion Syndrome	Hypospadias, Prominent nasal bridge, Dental crowding, Tapered finger, Abnormality of the dentitio...	ORPHA:65286
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Tented upper lip vermilion, Microcephaly, Pec...	ORPHA:488632
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High palate, Abnormality of...	ORPHA:861
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Female infertility, Scoliosis, Failure to thrive	OMIM:619518
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Thin vermilion border, Long philtrum, Malar flatt...	OMIM:616420
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Microcephaly, Micrognathia, Postnatal growth retardation, Decreased bo...	OMIM:608747
Brachyolmia Type 3	Barrel-shaped chest, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviat...	OMIM:113500
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot polydactyly, Short nose	ORPHA:210548
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Overlapping toe, Flexion contr...	OMIM:619383
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Scapular winging, Tricuspid regurgitation, Micrognathia, Hyperlordosis, Dental malocc...	ORPHA:73223
Fraser Syndrome	Hypoplasia of penis, Cleft ala nasi, Small scrotum, Dental crowding, Orofacial cleft, Vertebral s...	ORPHA:2052
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi...	OMIM:300009
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Tapered finger, Cryptorchidi...	OMIM:615803
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Premature graying of hair, Periodontitis, ...	ORPHA:1775
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Micrognathia, Cryptorchidism, Hypoplasia of the uterus, Bico...	OMIM:601186
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Microcephaly, Pectus excavatum, High palate, Narrow chest, Cli...	OMIM:620237
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Pes planus, Frontal bossing, Depressed nasal bridge, Large for gestational age, Cryptorchidism, W...	ORPHA:457485
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Trisomy 8P	Short fourth metatarsal, Single transverse palmar crease, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:264450
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Cleft hard palate, Cleft ...	ORPHA:69085
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Oligodontia, Wide...	OMIM:601216
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore...	ORPHA:101
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Sacral dimple, Anteverted...	OMIM:247200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Microcephaly, Tremor, Wide nasal bridge, Choreoathetosis, Myoclonus, Dy...	OMIM:312170
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:236680
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachycephaly, Knee flexion contracture, Red...	OMIM:259050
Acute Transverse Myelitis	Gastroparesis, Paralytic ileus, Upper limb muscle weakness, Constipation, Distal lower limb muscl...	ORPHA:139417
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Brachycepha...	OMIM:612474
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Talipes calcaneovalgus, Widely-spaced maxillary central...	OMIM:309580
Burkitt Lymphoma	Abnormality of the ovary, Neoplasm of the oral cavity	ORPHA:543
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach...	ORPHA:83469
Dravet Syndrome	Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Prominent nasal bridge, Postnatal growth retardation, Cryptorchid...	OMIM:614225
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Unilateral cryptorchidism, Proportionate short stature, Micrognathia, Mic...	OMIM:613457
Holoprosencephaly	Flat occiput, Feeding difficulties in infancy, Abnormality of the spleen, Deep philtrum, Depresse...	ORPHA:2162
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Osteolytic defects of the ...	ORPHA:765
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Gastroesophageal reflux, Shor...	ORPHA:79324
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Lumbar hyperlordosis, Abnormal pelvic girdle bone morphology, Paget disease of ...	OMIM:167320
Corneodermatoosseous Syndrome	Severe short stature, Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, ...	ORPHA:3194
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls	OMIM:616719
Facial Paresis, Hereditary Congenital, 3	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D...	OMIM:614744
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Short stature, Tapered finger, Wide...	OMIM:601088
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Consti...	ORPHA:168816
Noonan Syndrome	Hepatomegaly, Short stature, Hypogonadotropic hypogonadism, Micrognathia, Feeding difficulties in...	ORPHA:648
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Polycystic liver disease	OMIM:174050
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru...	OMIM:137550
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Flexio...	OMIM:620369
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Open mouth	ORPHA:228384
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Cleft palate...	OMIM:151100
Jacobsen Syndrome	U-Shaped upper lip vermilion, Flat occiput, Anteverted nares, Depressed nasal bridge, Trigonoceph...	OMIM:147791
Viss Syndrome	Prominent superficial blood vessels, Epidural hemorrhage, Micrognathia, High, narrow palate, Brac...	OMIM:619472
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Feeding difficulties in infancy, Depressed nasal ridge, Gastroesophag...	ORPHA:847
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Short stature, Pulmonic stenosis, Brachydactyly	OMIM:614819
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Carious teeth, Downturned corners of...	ORPHA:1110
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Depression, Bradykinesia, Dementia, Dy...	OMIM:168600
Pterygium Colli, Isolated	Short nose	OMIM:177990
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G...	OMIM:615530
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Short stature, Short neck, Cleft lip, Bulbous nose, Deep phil...	OMIM:618571
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho...	OMIM:613458
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr...	ORPHA:309246
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Geleophysic Dysplasia 2	Thin upper lip vermilion, Short stature, Ovoid vertebral bodies, Joint stiffness, Limitation of j...	OMIM:614185
Trisomy 13	Median cleft lip, Abnormality of the dentition, Kyphosis, Postaxial hand polydactyly, High, narro...	ORPHA:3378
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint...	OMIM:618914
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Depressed nasal bridge, Short stature, Postaxial polydactyly, Acc...	OMIM:617088
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Small hand, Spina bifida occulta, Broad columella, Depressed nasal t...	ORPHA:488434
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Anteverted nares, Single transverse palmar crease, Microg...	OMIM:617062
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Bradykinesia, Cognitive impair...	ORPHA:70594
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Downturned corners of mouth, Glossoptosis, Gastroesophageal reflux, High palate, Ab...	ORPHA:444077
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Failure to thrive, Hypospadias, Short stature, Un...	ORPHA:2315
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Failure to thrive, Dec...	OMIM:618048
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Dow...	OMIM:618590
Witteveen-Kolk Syndrome	Proximal placement of thumb, Feeding difficulties in infancy, High, narrow palate, Intracranial h...	OMIM:613406
1P36 Deletion Syndrome	Feeding difficulties in infancy, Abnormality of the spleen, Depressed nasal ridge, Brachycephaly,...	ORPHA:1606
Osteopetrosis, Autosomal Dominant 2	Mandibular osteomyelitis, Fractures of the long bones, Generalized osteosclerosis, Abnormality of...	OMIM:166600
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Ataxia, Microcephaly, Tremor, Unsteady gait, Abnormal pyramidal sign, ...	ORPHA:1942
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Brachydactyly	OMIM:603233
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Alkuraya-Kucinskas Syndrome	Small scrotum, Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Abnormal ...	OMIM:617822
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
X-Linked Hypophosphatemia	Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Toriello-Carey Syndrome	Short stature, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, Microcephal...	ORPHA:3338
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Growth d...	ORPHA:2414
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral...	OMIM:610682
Nabais Sa-De Vries Syndrome, Type 1	Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ...	OMIM:618828
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Feeding difficulties in infancy, Micromelia, Brachycep...	ORPHA:199
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, High palate, Clinodact...	OMIM:244450
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap, Short stature, Long philtrum	OMIM:300887
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Short stature, Acroosteolysis of distal phalanges (feet), Ab...	ORPHA:90154
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Aortic regurgitation, Cyanosis, Short stature, Short lingual frenulum, Partial anosmi...	ORPHA:2326
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystonia, Loss of ambulatio...	OMIM:607694
Ring Chromosome 7 Syndrome	Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f...	ORPHA:1449
Alg9-Cdg	Microretrognathia, Thin upper lip vermilion, Torticollis, Rhizomelia, Micrognathia, Wide anterior...	ORPHA:79328
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Cyanosis, Triceps weakness, Weakness of long finger extensor muscles, Sh...	ORPHA:98913
Trisomy 10P	Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Abnormal hip joint morphology, Depress...	ORPHA:171929
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Long nose, Do...	OMIM:300912
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ridges abnormal, Reduce...	ORPHA:881
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Long phil...	OMIM:616430
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtr...	OMIM:136140
Leukodystrophy, Hypomyelinating, 6	Ataxia, Microcephaly, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa...	OMIM:617247
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, Ileus, Growth delay, High palate, Short philtrum, Long philtru...	OMIM:620156
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar cr...	OMIM:614105
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Iron deficiency anemia, Abnormality of the liver, Supravent...	ORPHA:97214
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Hypermanganesemia With Dystonia 1	Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Bloom Syndrome	Prominent nose, Facial erythema, Clinodactyly of the 5th finger, Hepatic steatosis, Syndactyly, C...	OMIM:210900
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, High palate...	OMIM:248370
Oculopharyngodistal Myopathy 3	Tremor, Ataxia, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619473
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Short stature, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, Micropeni...	OMIM:309801
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Wide nasal...	OMIM:619124
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Esophageal Atresia	Cyanosis, Small for gestational age, Choanal atresia, Failure to thrive in infancy, Feeding diffi...	ORPHA:1199
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Smooth philtrum, Congenital hip dislocation, Anteverted nares, Short stature, Broad nasal tip, Ca...	ORPHA:357074
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Short stature, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose,...	OMIM:615851
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Tapered finger, Broa...	OMIM:239300
Surfactant Metabolism Dysfunction, Pulmonary, 1	Cyanosis, Clubbing, Neonatal death, Pulmonary arterial hypertension, Failure to thrive	OMIM:265120
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Micrognathia, 2-3 toe cutaneous syndactyly, Laryngotracheomalacia, Short philtrum,...	OMIM:618454
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short stature, Micrognathia, Missing ribs, Abnormality of the spleen, Ab...	ORPHA:1834
Coffin-Siris Syndrome	Thick nasal alae, Joint laxity, Depressed nasal bridge, Anteverted nares, Hypospadias, Cryptorchi...	ORPHA:1465
Thyrotoxic Periodic Paralysis	Myotonia, Abnormal muscle fiber morphology, Rhabdomyolysis, Constipation, Increased intramyocellu...	ORPHA:79102
Distal Deletion 9P	Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, Enlarged thor...	ORPHA:1642
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Short stature, Proximal placement of thumb, Long no...	OMIM:620113
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm	OMIM:244460
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Shor...	ORPHA:261236
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, Thin vermilion border,...	OMIM:601853
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Brachycephaly, Palmoplantar hyperkeratosis, High palate, Short philtrum...	OMIM:619127
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Downturned corners of mou...	ORPHA:261494
Peroxisome Biogenesis Disorder 5B	Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo...	OMIM:614867
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Abdominal dist...	OMIM:618528
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Brachycephaly, Narrow ...	ORPHA:207
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Short philtrum, De...	ORPHA:93945
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal distention, Abdominal pain	ORPHA:48686
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Feeding difficulties in infancy, Gastroesophageal reflux, High palate...	ORPHA:280633
Tetrasomy 18P	Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum	ORPHA:3307
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles...	ORPHA:95427
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Oral-pharyngeal dysphagia, High, narrow palate, Prominent protruding co...	OMIM:300966
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Microdontia, Advanced erupt...	OMIM:615873
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Pulmonary Capillary Hemangiomatosis	Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pe...	ORPHA:199241
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology	ORPHA:195
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Short stature, Anteverted nares, Micrognathia, Protruding tong...	OMIM:242860
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Microcephaly, Tremor, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance...	ORPHA:457240
Desmosterolosis	Hypoplastic nasal bridge, Failure to thrive, Rhizomelia, Anteverted nares, Micrognathia, Generali...	OMIM:602398
X-Linked Charcot-Marie-Tooth Disease Type 5	Tremor, Paraparesis, Ataxia, Gait disturbance	ORPHA:99014
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Macro...	OMIM:256810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Musculocontractural Ehlers-Danlos Syndrome	Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, High palate, Abnormality o...	ORPHA:2953
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Chromosome 17Q12 Deletion Syndrome	Long toe, Mandibular prognathia, Short stature, Micrognathia, Long fingers, Cryptorchidism, Upper...	OMIM:614527
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Depressed nasal bridge, Abnormal dental enamel morphology, Crypt...	ORPHA:1812
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta	OMIM:184400
Cerebrooculonasal Syndrome	U-Shaped upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial poly...	OMIM:605627
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Tented upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose...	ORPHA:261144
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Hepatoblastoma, Missing ribs, Feeding difficulties...	ORPHA:50
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the maxill...	ORPHA:1101
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat...	ORPHA:275761
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Brachycephaly, Coxa vara, Talipes calcaneovalgus, Promine...	ORPHA:2962
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod...	OMIM:608670
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Sec...	OMIM:618056
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Toriello-Lacassie-Droste Syndrome	Anteverted nares, Feeding difficulties, Macrocephaly, Growth delay, Short palm, Short nose, Failu...	ORPHA:3339
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st...	OMIM:278000
Microform Holoprosencephaly	Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Midnasal stenosis, Antevert...	ORPHA:280200
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibu...	OMIM:610442
Laryngeal Abductor Paralysis	Microcephaly, Talipes equinovarus, Cyanosis, Dysphagia	OMIM:150260
Peho Syndrome	Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Short nose, Retrognathia...	OMIM:260565
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Metrorrhagia, ...	ORPHA:370348
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti...	OMIM:608768
Necrotizing Enterocolitis	Shock, Small for gestational age, Abdominal distention, Diarrhea, Leukocytosis, Peritonitis, Bloo...	ORPHA:391673
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Single transverse palmar crease, Rhizomelia, Micrognathia, Short stature,...	OMIM:614114
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d...	OMIM:180750
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper...	DECIPHER:81
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Feeding diffic...	OMIM:105830
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly...	OMIM:165590
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Downturned corners of mouth, Widely spaced teeth, Talipes equinovarus, Ev...	OMIM:617865
Kagami-Ogata Syndrome	Frontal bossing, Pursed lips, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognat...	ORPHA:254519
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Br...	ORPHA:466950
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Single interphalangeal crease of fifth finger, Micr...	OMIM:257920
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Short stature, Abdominal distention, Hypochromic microcytic anemia, Secondary micro...	OMIM:619423
Holzgreve Syndrome	Abnormally ossified vertebrae, Turricephaly, Abnormal morphology of ulna, Aplasia/Hypoplasia of t...	ORPHA:2167
Woolly Hair Nevus	Widely-spaced incisors, Brachydactyly	ORPHA:79414
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Feeding difficulties in infancy, Metaphyseal widening, Knee flexion contr...	ORPHA:3206
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Confusion, Abnormal circulating porphyrin concentration, Abnormal fea...	ORPHA:100924
Fraser Syndrome 2	Wide nose, Underdeveloped nasal alae, Abdominal distention, Short thorax, Cutaneous syndactyly, H...	OMIM:617666
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Abnormality of the uterus, N...	ORPHA:59315
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Babinski sign, Dysmetria, Gait ataxia, Hypertonia, Steppage gait,...	OMIM:616505
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Micrognathia...	OMIM:619777
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea	OMIM:606824
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Impulsivity, Rigidity, Dysphagia, Depression, Bradykinesi...	ORPHA:411602
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Abnormal sperm motility, Female infertility, Clubbing, Nasal c...	ORPHA:244
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Hepatomegaly, Femur fracture, Spleno...	OMIM:612301
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Elevated fecal osm...	ORPHA:92050
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Pedal edema, Weight loss	ORPHA:168811
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Congestive heart f...	ORPHA:860
Castleman Disease	Nausea and vomiting, Myelofibrosis, Intestinal obstruction, Generalized lymphadenopathy, Abdomina...	ORPHA:160
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Progressive macrocephaly, Pa...	OMIM:615108
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic s...	ORPHA:79259
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, High palate, Bilateral single transverse p...	ORPHA:261112
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spa...	OMIM:280000
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia of teeth, W...	ORPHA:2728
Lethal Congenital Contracture Syndrome Type 1	Slender long bone, Abnormal rib morphology, Abnormal hip bone morphology, Micrognathia	ORPHA:1486
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Knee dislocation, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahep...	OMIM:619534
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, Growth de...	OMIM:614069
Peters Plus Syndrome	Micrognathia, Clitoral hypoplasia, Widely spaced teeth, Clinodactyly of the 5th finger, Spina bif...	ORPHA:709
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,...	ORPHA:521426
Steinert Myotonic Dystrophy	Handgrip myotonia, Myotonia of the upper limb, Skeletal muscle atrophy, Intestinal pseudo-obstruc...	ORPHA:273
Van Esch-O'Driscoll Syndrome	Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Short stature, Spina bifida...	OMIM:301030
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Acrocephalopolydactylous Dysplasia	Short nose, Postaxial hand polydactyly, Micromelia	OMIM:200995
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Bilateral cryptorchidism, Postnatal g...	ORPHA:293843
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:313200
Wiedemann-Steiner Syndrome	Gastroesophageal reflux, High palate, Clinodactyly of the 5th finger, Long philtrum, Aplasia/Hypo...	ORPHA:319182
Chromosome 3Q29 Duplication Syndrome	Pes planus, Bulbous nose, Obesity, Wide nasal bridge, Multiple palmar creases, Short nose	OMIM:611936
Aspartylglucosaminuria	Mandibular prognathia, Beaking of vertebral bodies, Pes planus, Abnormal morphology of ulna, Abno...	ORPHA:93
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Gonadal dy...	OMIM:618820
Distal Deletion 15Q	Flat occiput, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Finger...	ORPHA:1596
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Hypospadias, Short stature, Micrognathia, Cleft soft palate, Cryptorchidism, Ma...	ORPHA:2282
X-Linked Intellectual Disability, Cantagrel Type	Short nose, Tented upper lip vermilion, Short philtrum, Shawl scrotum	ORPHA:85277
Neu-Laxova Syndrome	Micromelia, Micrognathia, Depressed nasal ridge, Large hands, Hypogonadism	ORPHA:2671
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Donnai-Barrow Syndrome	Depressed nasal bridge, Wide anterior fontanel, Bicornuate uterus, Abnormality of the uterus, Sho...	ORPHA:2143
Lathosterolosis	Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty...	OMIM:607330
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Thin upper lip vermilion, Failure to thrive in infancy, Micrognathia, Toot...	ORPHA:529962
Maternal Phenylketonuria	Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Microcephaly, Wide nasal bridg...	ORPHA:2209
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso...	OMIM:234200
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,...	ORPHA:363611
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Tented upper lip vermilion, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all d...	OMIM:614749
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Microcephaly, Postnatal growth retardation, Jaundice...	ORPHA:168577
Lymphedema-Hypoparathyroidism Syndrome	Short stature, Pulmonary lymphangiectasia, Wide nasal bridge, Increased carrying angle, Brachydac...	OMIM:247410
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Progressive macrocephaly, Pa...	OMIM:615109
Hypoplasminogenemia	Cervicitis, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tube morphology, A...	ORPHA:722
Loeys-Dietz Syndrome 3	Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, Bifid uvula, Ara...	OMIM:613795
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Short stature, Prea...	OMIM:610536
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Equinovarus deformity, Cranial asymmetry, Camptodactyly of 2nd-5...	OMIM:609128
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Clubbing, Weight loss	ORPHA:747
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest...	ORPHA:247585
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, ...	ORPHA:2834
Cystathioninuria	Tremor, Talipes equinovarus, Cystathioninemia	ORPHA:212
Intellectual Developmental Disorder, X-Linked 12	Microcephaly, Tremor, Depression, Hyperkinetic movements, Gait disturbance, Spasticity	OMIM:300957
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve	ORPHA:449563
Spastic Paraplegia 9B, Autosomal Recessive	Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gai...	OMIM:616586
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Thin upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Br...	ORPHA:466943
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Single transverse palmar cre...	ORPHA:254528
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Microcephaly, Tremor, Inability to walk, Dysmetria, Ga...	OMIM:617988
Acquired Methemoglobinemia	Tachycardia, Cyanosis, Abdominal pain, Hypoxemia, Syncope, Vomiting, Palpitations, Arrhythmia, Me...	ORPHA:464453
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting, Lymp...	OMIM:619991
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Thick vermilion border, Long philtrum	ORPHA:833
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Myocardial infarction, Gastroesophageal reflux, Acrocyanosis, Abdominal pain, Vasculit...	ORPHA:183
Poikiloderma With Neutropenia	Joint laxity, Plantar hyperkeratosis, Depressed nasal bridge, Short stature, Micrognathia, Underd...	OMIM:604173
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, Cryptorchidism, Th...	OMIM:619194
Alternating Hemiplegia Of Childhood	Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Cardiac conduction abnormality, Abd...	ORPHA:2131
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Abnormal liver sonography, Biliary tract abnormality, Weigh...	ORPHA:90003
Meester-Loeys Syndrome	Relative macrocephaly, Pes planus, Frontal bossing, Arachnodactyly, Short stature, Poor wound hea...	OMIM:300989
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Deep philtrum, Finger joint hypermobility, Juvenile myelomonocytic leukemia, Depressed nasal brid...	OMIM:613563
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Cyanosis, Left-to-right shunt, Tachycardia, Abnormal atrioventricular...	ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 32	Microcephaly, Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity	OMIM:617664
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Anteverted nar...	OMIM:301044
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Depressed nasal bridge, Anteverted nares, Short stature, Abnormal thumb morpholog...	ORPHA:2719
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Short stature, Broad nasal tip, Wide nasal bridge, Shortening of all ...	OMIM:614207
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, T lymphocytopenia, Gastroeso...	ORPHA:443811
Slc39A8-Cdg	Osteopenia, Decreased mitochondrial complex III activity in liver tissue, Failure to thrive in in...	ORPHA:468699
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Pes cavus, Short nose, Short stature	ORPHA:289266
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Aplastic clavicle, Micromelia, Postaxial polydactyly, Preaxial polydactyl...	OMIM:616546
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, Postnatal growth retardatio...	OMIM:300749
Trisomy 18	Bilateral single transverse palmar creases, Microretrognathia, Short stature, Cryptorchidism, Dev...	ORPHA:3380
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Failure to thrive, Short stature, Micrognathia, Protruding tongue, Short neck, Growth ...	OMIM:608779
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Aortic regurgitation, Microcephaly, Postnatal growth retardation, Hip dislocation, Fe...	OMIM:616603
Genitopatellar Syndrome	Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture, Short phalanx...	OMIM:606170
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, H...	ORPHA:3412
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Hydro...	OMIM:613603
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Abnormal vertebral morphology, Proportionate short stature	ORPHA:99688
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Caffey Disease	Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Subperiosteal bon...	OMIM:114000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Chronic diarrhea, Short palm, Cutaneous photosensitivity, Brachydactyly	ORPHA:3217
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Prominent nasal bridge, Trigon...	ORPHA:1587
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Po...	OMIM:617527
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattenin...	OMIM:241310
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Lymphopenia, Sinusitis, Severe B lymphocytopenia, Anterior rib cupping, Aplasia of ...	OMIM:102700
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Exaggerated cupid...	OMIM:618619
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Cleft soft palate, Genu valgum, Downturned corners of mouth, Hypoplasia of the ova...	OMIM:619321
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Tricuspid regurgitation, Abdominal distention, Mediastina...	OMIM:620233
Chromosome 1P36 Deletion Syndrome, Distal	Feeding difficulties in infancy, Depressed nasal ridge, Brachycephaly, Orofacial cleft, Gastroeso...	OMIM:607872
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Retinal telangiectasia, Metaphyseal sclerosi...	OMIM:612199
Aymé-Gripp Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Rocker bottom foot, Short stature, Tapered fing...	ORPHA:1272
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Short stature, Wide nasal bridge, Short distal phalanx of finger	ORPHA:1563
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Thin upper lip vermilion, Bulbous nose, Wide nasal bridge, Mild short stature, Short nose	OMIM:620292
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ...	ORPHA:2835
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat...	ORPHA:79095
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive sys...	ORPHA:1521
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Progressive macrocephaly, Pa...	OMIM:158350
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, ...	ORPHA:672
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati...	ORPHA:77301
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat...	ORPHA:2876
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Cleft palate, Parathyroi...	ORPHA:2237
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short stature, Depressed nasal bridge, Anteverted nares, Severe postnatal growth retardation, Mac...	OMIM:613038
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Feeding difficulties in infancy, Congestive heart failu...	ORPHA:444013
Pediatric Systemic Lupus Erythematosus	Abdominal pain, Raynaud phenomenon, Abdominal distention, Diarrhea, Oral ulcer, Lymphadenopathy, ...	ORPHA:93552
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Anteverted nares, Narrow nasal tip, Tapered finger, Abnormality of cani...	ORPHA:477993
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Weight loss	ORPHA:103910
You-Hoover-Fong Syndrome	Accessory oral frenulum, Microcephaly, Kyphoscoliosis, Pectus excavatum, Cleft palate, Clinodacty...	OMIM:616954
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi...	OMIM:617675
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Cryptorchidism, Short toe, Wide nasa...	ORPHA:1519
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix	OMIM:245650
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pes planus, Frontal bossing, Thin upper lip vermilion, Depressed nasal bri...	OMIM:620029
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Anteverted nares, Depressed nasal bridge, Short stature, Gastrointestinal dysmotility, ...	ORPHA:293987
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Clubbing of fingers, Fasciculations, Dysphagia, ...	OMIM:619574
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose, Mandibular prognathia	OMIM:618087
Caudal Regression Syndrome	Bowel incontinence, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypopla...	ORPHA:3027
Cdags Syndrome	Frontal bossing, Sagittal craniosynostosis, Parietal foramina, Brachycephaly, Short ribs, Short c...	OMIM:603116
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Proximal placement of thumb, Brachycephaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Sh...	OMIM:616263
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Hsd10 Disease, Infantile Type	Cyanosis, Microcephaly, Gastrointestinal dysmotility, Dysphagia, Hypertrophic cardiomyopathy	ORPHA:391428
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Ventri...	OMIM:300855
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Large for gestational age, Cleft palate, ...	OMIM:614080
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Gingival overgrowth,...	OMIM:619179
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypog...	OMIM:227650
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis, Clubbing	OMIM:610910
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal ...	OMIM:256520
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Postnat...	OMIM:192350
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Single transverse palmar crease, Long nose, Downturned corners of mouth, High palate, Clinodactyl...	OMIM:619522
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Absent th...	OMIM:227645
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Premature thelarche, Widely spaced teeth, Micropenis, Hypospadias, Short stature, Cleft soft pala...	ORPHA:268261
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Dyrk1A-Related Intellectual Disability Syndrome	Structural foot deformity, Vomiting, Gastroesophageal reflux, Clinodactyly of the 5th finger, Ara...	ORPHA:464306
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athe...	OMIM:617710
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Short stature, Microcephaly, Feeding difficulties in infancy, Thrombocytopenia, Spl...	OMIM:225750
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Brachycephaly...	OMIM:606851
Charge Syndrome	Feeding difficulties in infancy, Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflu...	ORPHA:138
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Wide nose, Long foot, Microcephaly, Postnatal ...	ORPHA:508
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Camptodactyly of finger, Short thorax, Rib fus...	ORPHA:2311
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Hepat...	ORPHA:2538
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Dolichocephaly, Abdominal distention, Hemiverteb...	OMIM:271520
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Jaund...	OMIM:613070
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Thick nasal alae, Retrognathia, Micrognathia	ORPHA:163961
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Deeah Syndrome	Decreased body weight, Overlapping fingers, Short stature, Cervical hemivertebrae, Short neck, Cr...	OMIM:619004
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Preaxial hand polydactyly, Short thumb, T...	ORPHA:1120
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Short stature, Hypergonadotropic hypogonadism, Absent th...	OMIM:600901
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Downturned corners of mo...	ORPHA:79500
X-Linked Acrogigantism	Increased body mass index, Diastema, Abdominal distention, Large hands, Hypogonadism, Delayed pub...	ORPHA:300373
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
19P13.13 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Anteverted nares, ...	ORPHA:357001
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Broad columella, Long hallux, Broad hallux pha...	ORPHA:2308
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, Dysdiadochokinesis, D...	OMIM:614381
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Short stature, Cachexia, Micrognathia, Narrow palate, Joint hyperfle...	ORPHA:109
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Hepatomegaly, Congenital hip dislocation, Block vertebrae, Cyanosis, Asple...	OMIM:306955
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Adams-Oliver Syndrome 5	Syndactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonic stenosis, Pulmonary art...	OMIM:616028
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Shoulder dislocation, Vomiting, Gastroeso...	ORPHA:287
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Choanal stenosis, Short phil...	ORPHA:798
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Osteomalacia, Poor appetite, Postnatal growth ...	OMIM:227810
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Eryt...	ORPHA:343
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology	ORPHA:2345
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow ...	ORPHA:373
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Chylomicron Retention Disease	Acanthocytosis, Abdominal distention, Diarrhea, Growth delay, Vomiting, Increased hepatocellular ...	ORPHA:71
Surfactant Metabolism Dysfunction, Pulmonary, 3	Cyanosis, Clubbing, Hypoxemia, Neonatal death, Failure to thrive	OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Clubbing, Hypoxemia, Pulmonary arterial hypertension, Failure to thrive	OMIM:610913
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Cyanosis, Right ventricular failure, Increased pulmonary vascular resistance, Decre...	ORPHA:60025
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Per...	ORPHA:93325
Fanconi Anemia, Complementation Group L	Micrognathia, Absent radius, Absent thumb, Cleft palate, Growth delay, Aplasia of the uterus, Int...	OMIM:614083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morpholog...	ORPHA:3068
Nephrotic Syndrome, Type 1	Small for gestational age, Abdominal distention, Growth delay, Gastroesophageal reflux	OMIM:256300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Cho...	ORPHA:83617
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Nasal congestion, Retrograde ejaculation, High pala...	OMIM:223360
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Non-midline cleft lip, D...	ORPHA:1791
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Maternal Uniparental Disomy Of Chromosome 2	Pes planus, Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Preaxial hand...	ORPHA:96179
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of...	OMIM:123500
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Anteverted nares, Protruding tongue, Cryptorchidism, Obes...	ORPHA:96147
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Recurrent upper respiratory tract infections, Cyanosis	OMIM:263000
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Elevated circulating propionylcar...	OMIM:614857
Fg Syndrome 3	Chronic constipation, Joint contracture, Pyloric stenosis, Feeding difficulties	OMIM:300406
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,...	ORPHA:1652
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
High Altitude Pulmonary Edema	Nausea and vomiting, Tachycardia, Cyanosis, Anorexia, Leukocytosis, Hypoxemia	ORPHA:330012
Renpenning Syndrome	Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin...	ORPHA:3242
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Cryptogenic Organizing Pneumonia	Neutrophilia, Cyanosis, Anorexia, Leukocytosis, Weight loss, Hypoxemia	ORPHA:1302
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, High, narrow palate, Coronal craniosynostosis...	OMIM:612289
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Osteomalacia, Hepatocellular carcinoma, Ab...	OMIM:277900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Thin upper lip vermilion, Toe syndactyly, Short stature, Bulbous nose, Hypo...	ORPHA:140952
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Micrognathia	OMIM:601809
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait distu...	ORPHA:83629
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose	OMIM:617802
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa...	ORPHA:35710
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Deep philtrum...	ORPHA:314655
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B...	OMIM:137920
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Overlapping toe, Systolic heart murmur, Microcephaly	OMIM:617478
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Decreased body weight, Recurrent in...	ORPHA:51890
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Cardiac arrest, Abnormal thorax morphology, Hypoxemia, Bradycardia, Hypote...	ORPHA:70587
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa...	OMIM:600376
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Microphthalmia, Syndromic 6	Single transverse palmar crease, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5t...	OMIM:607932
Trichothiodystrophy 4, Nonphotosensitive	Anteverted nares, Decreased fertility, Hypoplasia of teeth, Growth delay, Short nose, Retrognathia	OMIM:234050
Mckusick-Kaufman Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, ...	ORPHA:2473
Craniofacial-Deafness-Hand Syndrome	Short nose, Ulnar deviation of the hand, Depressed nasal bridge, Narrow naris	OMIM:122880
Thyroid Hypoplasia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation	ORPHA:95720
Stormorken Syndrome	Short stature, Epistaxis, Howell-Jolly bodies, Prominent nose, Asplenia, Thrombocytopenia, Subara...	OMIM:185070
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Choanal atresia, Abdominal distention, Secretory diarrhea, Cleft palate, Macrocephaly	OMIM:270420
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal rib morphology, Arachnodactyly, Missing ribs	ORPHA:2759
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Maxillozygoma...	ORPHA:1790
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Cowden Syndrome	Short stature, Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, Palmoplantar...	ORPHA:201
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out...	OMIM:187300
Gapo Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Wide anterior fontan...	OMIM:230740
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Axenfeld-Rieger Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay, Everted lower...	ORPHA:782
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Bicornuate uterus, Short sternum...	OMIM:222448
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:601104
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Choanal atresia, Absence of ...	OMIM:604292
Humeroradial Synostosis	Humeroradial synostosis, Brachycephaly	OMIM:236400
Coffin-Siris Syndrome 1	Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodactyly of the...	OMIM:135900
Cerebrofaciothoracic Dysplasia	Wide nose, Short stature, Cleft upper lip, Short neck, Hemivertebrae, Cleft palate, Wide mouth, V...	ORPHA:1394
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Shoul...	ORPHA:404454
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Protruding tongue, Cyanosis, Microcephaly	OMIM:619580
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis...	OMIM:304050
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Intrauterine growth r...	OMIM:194190
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Epiphyseal stippling, Hypoplasia of the nasal bone, Knee flexion contracture	OMIM:118650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,...	ORPHA:457284
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex...	ORPHA:100086
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Abdominal distention, Jaundice, Osteoporosis, Bilia...	ORPHA:186
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth ret...	OMIM:616113
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Concave nasal ridge, High palate, Short nose, Failure to th...	OMIM:170100
Arterial Tortuosity Syndrome	Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femo...	ORPHA:3342
Zellweger Syndrome	Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Wide anterior fontanel, Ma...	ORPHA:912
Down Syndrome	Sandal gap, Single transverse palmar crease, Short stature, Protruding tongue, Hypoplastic iliac ...	OMIM:190685
Hyperlysinemia	Short attention span, Neck hypertonia, Hyperactivity, Poor motor coordination, Spastic tetrapares...	ORPHA:2203
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Tibial Hemimelia	Absent tibia	OMIM:275220
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Underdeveloped nasal alae, Cleft upper lip, Wi...	ORPHA:894
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Speech apraxia, Waddling gait, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Decreased body weight, Depressed nasal bridge, Anteverted nares, Mic...	OMIM:608013
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Letterer-Siwe Disease	Abdominal distention, Jaundice, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, An...	OMIM:246400
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Cyanosis, Microcephaly, Feeding difficulties in infancy, Splenomegaly, Progressive ...	OMIM:252010
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l...	OMIM:616924
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Mosaic Trisomy 8	Frontal bossing, Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology...	ORPHA:96061
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Micrognathia, Tr...	OMIM:618460
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Dementi...	OMIM:105210
Pontocerebellar Hypoplasia Type 7	Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph...	ORPHA:284339
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Fucosidosis	Hepatomegaly, Failure to thrive, Abnormality of the dentition, Kyphosis, Abnormality of the gallb...	ORPHA:349
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Acute Intermittent Porphyria	Nausea and vomiting, Proximal muscle weakness in upper limbs, Tachycardia, Abdominal pain, Abdomi...	ORPHA:79276
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Vomiting, Hypophosphatemic rickets, Abnormal hip join...	ORPHA:51608
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Polycythemia, Microcephaly, Growth delay, Methemoglobinemia	OMIM:250800
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Dysphagia...	OMIM:254900
Polyembryoma	Abnormal peritoneum morphology, Abdominal pain, Abdominal distention, Irregular menstruation, Mac...	ORPHA:180229
Serotonin Syndrome	Restlessness, Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Agitation, Myoclonus...	ORPHA:43116
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Cyanosis, Microcephaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhy...	ORPHA:159
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Dysphagia, Athetosis, Dement...	ORPHA:25
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Submucous cleft har...	ORPHA:457279
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Micrognathia, Shor...	OMIM:619841
Mirizzi Syndrome	Abdominal colic, Tachycardia, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Pancreati...	ORPHA:521219
Periventricular Nodular Heterotopia	Pyloric stenosis, Gastroesophageal reflux, Joint hypermobility	ORPHA:98892
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, H...	OMIM:215600
Trisomy 1Q	Microretrognathia, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Prea...	ORPHA:261344
Trichothiodystrophy 1, Photosensitive	Short stature, Small for gestational age, Flexion contracture, Triangular mouth, Hypogonadism, Sh...	OMIM:601675
Spastic Paraplegia 9A, Autosomal Dominant	Short stature, Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Vomiting, Pes cav...	OMIM:601162
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,...	ORPHA:309031
Encephalopathy, Ethylmalonic	Failure to thrive, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae	OMIM:602473
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Short stature, Short thumb, Crypto...	OMIM:227646
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Hypospadias, Short stature, Small for gestational age, Cryptorchidism, Go...	OMIM:300661
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Depressed nasal bridge, Small for gestational age, Short stature, Microceph...	OMIM:613355
Hereditary Fructose Intolerance	Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Growth delay, Constipatio...	ORPHA:469
White-Kernohan Syndrome	Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Antev...	OMIM:619426
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Chronic ...	ORPHA:699
Tricuspid Atresia	Cyanosis	ORPHA:1209
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Jaundice, Microvesicular hepatic steatosis, Congestive heart failure, Chole...	OMIM:617156
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Short philtrum	ORPHA:96129
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, High palate, Syndactyly, Anteverted nares, Hypospadias,...	OMIM:619488
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement...	ORPHA:447753
Gaucher Disease, Type Ii	Hepatomegaly, Trismus, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal ref...	OMIM:230900
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Cyanosis, Tachycardia, Atrial fibri...	ORPHA:137675
Laryngotracheal Angioma	Cyanosis, Vomiting, Feeding difficulties	ORPHA:137935
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Dysphagia, Loss of...	OMIM:607426
Metachromatic Leukodystrophy	Incoordination, Ataxia, Tremor, Dementia, Gait disturbance, Decerebrate rigidity, Progressive spa...	ORPHA:512
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Hypermobile Ehlers-Danlos Syndrome	Gastrointestinal dysmotility, Abnormality of the gingiva, Gingivitis, Gastroesophageal reflux, Mi...	ORPHA:285
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E...	ORPHA:522077
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morpho...	OMIM:305100
Loeys-Dietz Syndrome 2	Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Syndactyly, Arachnodact...	OMIM:610168
Hypoadrenocorticism, Familial	Feeding difficulties in infancy, Cyanosis, Vomiting	OMIM:240200
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Postnat...	ORPHA:435628
Adenylosuccinase Deficiency	Thin upper lip vermilion, Anteverted nares, Growth delay, Wide mouth, Long philtrum, Short nose, ...	OMIM:103050
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Orofacial cleft, High palate, Uterine rupt...	ORPHA:60030
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Depressed nasal bridge, Anteverted ...	ORPHA:2729
Ethylmalonic Encephalopathy	Acrocyanosis, Diarrhea, Failure to thrive, Petechiae	ORPHA:51188
Opitz-Kaveggia Syndrome	Anal stenosis, Multiple joint contractures, Choanal atresia, Intestinal malrotation, Prominent no...	OMIM:305450
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Diarrhe...	ORPHA:653
Dend Syndrome	Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho...	ORPHA:79134
Acute Interstitial Pneumonia	Cyanosis, Lymphadenopathy, Hypoxemia, Hypertension, Reduced hematocrit	ORPHA:79126
Paternal Uniparental Disomy Of Chromosome 6	Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cryptorchidism, L...	ORPHA:96191
Fg Syndrome Type 1	Limited elbow extension and supination, Progressive flexion contractures, Choanal atresia, Abnorm...	ORPHA:93932
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Weight loss, Abnormal lymph node morpho...	ORPHA:677
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Macular purpura, Hepatic failure, Acrocyanosis, Internal hemorrha...	ORPHA:49566
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate, Depressed nasal bridge, Craniosynostosis	ORPHA:314575
Mowat-Wilson Syndrome	Delayed eruption of teeth, Short stature, Microcephaly, Pectus excavatum, Abdominal distention, C...	OMIM:235730
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Chronic Pneumonitis Of Infancy	Hypoxemia, Mediastinal lymphadenopathy, Failure to thrive, Cyanosis	ORPHA:91359
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Eunuchoid habitus, Hypoplasi...	ORPHA:3044
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Anteverted nares, Narrow mouth, Short nose, Failure to thrive	OMIM:613735
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Decreased body weight, Brachydactyly	OMIM:602531
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Hypohidrotic Ectodermal Dysplasia	Frontal bossing, Sinusitis, Anteverted nares, Abnormal dental morphology, Abnormality of the dent...	ORPHA:238468
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge, Short philtr...	OMIM:601499
Glycogen Storage Disease Ib	Hepatomegaly, Short stature, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteopo...	OMIM:232220
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypogeusia, Grow...	OMIM:223900
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Anorexia, Tremor, Abnormal...	ORPHA:3008
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvatur...	OMIM:619475
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Microcephaly,...	OMIM:614437
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Midface retrusion, Transient neutropenia, Chronic neutropenia, Long foot, Large for gestational a...	ORPHA:500095
Combined Oxidative Phosphorylation Deficiency 15	Incoordination, Ataxia, Progressive neurologic deterioration, Microcephaly, Tremor, Unsteady gait...	OMIM:614947
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Abdominal pain, Abdominal distention, Hypovolemia, Capillary leak, Nausea	ORPHA:64739
Oeis Complex	Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female...	OMIM:258040
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevat...	OMIM:261740
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Failure to thrive, Secretory diarrhea	OMIM:214700
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Abnormally loud pulmonic component of the second heart sound, Cyanosis, Left...	ORPHA:99104
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici...	ORPHA:99772
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Chronic diarrhea, Facial hypotonia, Pyloric stenosis	OMIM:616355
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hypert...	ORPHA:91347
Cadds	Intrauterine growth retardation, Short nose, Micrognathia	ORPHA:369942
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyse...	OMIM:259770
Adams-Oliver Syndrome 1	Toe syndactyly, Cutis marmorata, Microcephaly, Cleft upper lip, Cleft palate, Hypertension, Talip...	OMIM:100300
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Pyloric stenosis, Enamel hypoplasia	OMIM:226700
Weill-Marchesani Syndrome 4	Short stature, Brachydactyly	OMIM:613195
Chiari Malformation Type Ii	Feeding difficulties, Cyanosis, Dysphagia	OMIM:207950
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Lowe Oculocerebrorenal Syndrome	Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Postnatal growth ...	OMIM:309000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Flat nasal alae, Bilatera...	OMIM:610828
Unilateral Polymicrogyria	Involuntary movements, Microcephaly, Spastic tetraplegia, Hemiparesis, Poor fine motor coordinati...	ORPHA:268943
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Increased hepatic echogenicity, Hepatic failure, Hepatic steatosis	OMIM:261680
Koolen-De Vries Syndrome	Vertebral fusion, Prominent nasal bridge, Abnormal dental enamel morphology, Underdeveloped nasal...	ORPHA:96169
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Abnormal heart valve physiology, Hypoplasia of the t...	ORPHA:3384
Prune Belly Syndrome	Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus	ORPHA:2970
Ehlers-Danlos Syndrome, Vascular Type	Short stature, Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalange...	OMIM:130050
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Atrial fibrillation, Congestive heart failur...	ORPHA:31826
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Decreased serum zinc, Emotional lability	OMIM:201100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Small for gestational age, Tricuspid regurgitation, Hypoxemia, Intrauteri...	ORPHA:555874
Criss-Cross Heart	Cyanosis, Tricuspid stenosis, Abnormal thorax morphology, Feeding difficulties, Pulmonic stenosis...	ORPHA:1461
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Cryptorchidism, Genera...	OMIM:601776
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Tented upper lip verm...	OMIM:601803
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Glycogen Storage Disease Ia	Hepatomegaly, Short stature, Hepatocellular carcinoma, Osteoporosis, Growth delay, Hypertension, ...	OMIM:232200
Primary Hyperoxaluria	Failure to thrive, Cutis marmorata, Abnormality of the dentition, Heart block, Generalized osteos...	ORPHA:416
Familial Dysautonomia	Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Feeding difficulties in inf...	ORPHA:1764
Microvillus Inclusion Disease	Abdominal distention, Diarrhea, Hypovolemia	ORPHA:2290
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Metachromatic Leukodystrophy, Adult Form	Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the gallbladder, Orthostatic...	ORPHA:309271
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Microcephaly, Tremor, Inability to ...	OMIM:208900
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Osteopenia, Joint laxity, Depressed nasal bridge, Pyloric stenosis, ...	ORPHA:363705
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ...	OMIM:619461
Trisomy 18P	Facial palsy, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Pyloric stenosis, Wid...	ORPHA:1715
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Currarino Syndrome	Absence of the sacrum, Hemisacrum, Gastrointestinal obstruction, Abdominal distention, Bifid sacr...	OMIM:176450
Hurler Syndrome	Abnormal clavicle morphology, Frontal bossing, Camptodactyly of finger, Abnormal rib morphology, ...	ORPHA:93473
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Cleft palate, ...	ORPHA:261197
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Micrognathia	OMIM:188025
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Epiphyseal stippling, Short metacarpal, Abnormal cartilage matrix, Short distal phalanx of finger	ORPHA:86822
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Dolichocephaly, Broad ischia, Diaphyseal dysplasia, Sh...	OMIM:619727
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Cholecystitis	ORPHA:309256
Tetraamelia-Multiple Malformations Syndrome	Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, Tet...	ORPHA:3301
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly	OMIM:614262
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho...	OMIM:619313
Kasabach-Merritt Syndrome	Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Abnormal lymphatic vesse...	ORPHA:2330
Septopreoptic Holoprosencephaly	Abnormal rib morphology	ORPHA:280195
Thyroid Ectopia	Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation	ORPHA:95712
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high...	ORPHA:2299
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Pyloric stenosis, Feeding difficulties, Meckel diverticulum	OMIM:616395
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Hepatic failure	ORPHA:664
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Feeding difficulties	OMIM:617219
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Joint laxity, Small scrotum, Sandal gap, Broad n...	OMIM:620330
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo...	OMIM:107480
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Colonic Atresia	Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus	ORPHA:1198
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Abnormal rib morphology	ORPHA:1300
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Cholecystitis	ORPHA:309263
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Microcephaly, Feeding difficulties, Gastroesophageal reflux, Vomiting, Failure to thriv...	OMIM:618426
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Obesity, Wide mouth, Short nose, Joint hypermobility	ORPHA:293948
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Choanal atresia, Micrognathia, Pyloric stenosis, Wide nasal bridge, An...	OMIM:619148
Noonan Syndrome 3	Hypoplastic nasal bridge, Short stature, Anteverted nares, Sagittal craniosynostosis, Cryptorchid...	OMIM:609942
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Abdominal distention, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Epidermolysis Bullosa Simplex With Pyloric Atresia	Oral mucosal blisters, Abdominal distention, Skin fragility with non-scarring blistering, Vomitin...	ORPHA:158684
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis...	ORPHA:2241
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Osteopenia, Joint laxity, Micrognathia, Morgagni diaphragmat...	OMIM:613177
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Pyloric sten...	ORPHA:169189
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the ...	ORPHA:436252
Aicardi-Goutières Syndrome	Cutis marmorata, Short stature, Microcephaly, Neonatal alloimmune thrombocytopenia, Raynaud pheno...	ORPHA:51
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Cyanosis, Tachycardia, Atrial fibrillation, Congestive heart failur...	ORPHA:980
Vici Syndrome	Abnormal posturing, Elevated circulating creatine kinase concentration, Dysphagia, Microcephaly	OMIM:242840
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology	ORPHA:1163
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma...	ORPHA:322
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Narrow nasal ridge, Underdeveloped nasal alae, Pyloric stenosis, Flexion contracture,...	OMIM:614438
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Macroglo...	ORPHA:505248
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Anorexia, Abdominal pain...	ORPHA:48435
Laryngotracheoesophageal Cleft	Impaired oropharyngeal swallow response, Cyanosis	ORPHA:2004
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology	ORPHA:2234
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Raynaud phenomenon, Hepatitis, Abnormal thymus morpholog...	ORPHA:589
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Depressed nasal bridge, Elbow contracture, Broad nasal ti...	OMIM:617137
Lymphatic Malformation 7	Abdominal distention, Anemia	OMIM:617300
Congenital Tracheomalacia	Cyanosis, Recurrent upper respiratory tract infections, Feeding difficulties, Gastroesophageal re...	ORPHA:95430
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Abdominal distention, Peritonitis, Bidirectional shunt	OMIM:619351
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Congenital hip dislocation, Hypospadias, Short stature, Premature loss of prima...	ORPHA:286
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Growth delay, Macroglossia, Constipation, ...	OMIM:218700
Immunodeficiency, Common Variable, 10	Pyloric stenosis, Recurrent viral upper respiratory tract infections, Frequent Giardia lamblia in...	OMIM:615577
Koolen-De Vries Syndrome	Vertebral fusion, Prominent nasal bridge, Feeding difficulties in infancy, Pyloric stenosis, Bulb...	OMIM:610443
Double Outlet Left Ventricle	Cyanosis, Cryptorchidism, Orofacial cleft, Abnormal right ventricular function, Failure to thrive...	ORPHA:3427
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter...	OMIM:618280
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp...	ORPHA:887
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar h...	ORPHA:2907
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Cyanosis, Congestive heart failure, Left ventricular outflow tract obstructi...	ORPHA:99050
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal epiph...	ORPHA:667
Adult-Onset Still Disease	Cartilage destruction	ORPHA:829
Distal 22Q11.2 Microdeletion Syndrome	Prominent nasal bridge, Choanal atresia, Bowel incontinence, Underdeveloped nasal alae, High, nar...	ORPHA:261330
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Norrie Disease	Diabetes mellitus, Cryptorchidism, Thin vermilion border, Erectile dysfunction, Uterine rupture, ...	ORPHA:649
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Oral mucosal blisters, Abdominal distention, Diarrhea, Gastr...	ORPHA:95455
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Abdominal distention	OMIM:619362
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of...	OMIM:164210
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Orofacial cleft, Bifid nose, Midline defect of the no...	OMIM:229400
Distal Deletion 12Q	Anteverted nares, Micrognathia, Wide anterior fontanel, Supernumerary tooth, Bulbous nose, High, ...	ORPHA:96149
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar k...	ORPHA:2908
Moderate Hemophilia A	Cartilage destruction, Hip contracture	ORPHA:169805
Molybdenum Cofactor Deficiency, Complementation Group B	Growth delay, Short nose, Thick vermilion border, Long philtrum	OMIM:252160
Dextrocardia	Abnormal foot morphology, Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Molybdenum Cofactor Deficiency, Complementation Group A	Growth delay, Short nose, Thick vermilion border, Long philtrum	OMIM:252150
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Marden-Walker Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2461
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Down-sloping shoulders, Hypospadias, Cleft upper lip, High, narrow p...	OMIM:309800
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis	OMIM:218350
Myasthenic Syndrome, Congenital, 21, Presynaptic	Knee flexion contracture, Cyanosis, Meconium ileus, Feeding difficulties	OMIM:617239
Costello Syndrome	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Rhabdomyosarco...	OMIM:218040
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Polysplenia	OMIM:616749
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioven...	OMIM:259900
Griscelli Syndrome	Pyloric stenosis	ORPHA:381
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology	ORPHA:2396
Bladder Exstrophy And Epispadias Complex	Abnormal pelvic girdle bone morphology	OMIM:600057
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Pyloric stenosis, Abnormality of exocrine pancreas physiology, Arthritis, ...	ORPHA:93111
Knobloch Syndrome 2	Chronic constipation, Enamel hypoplasia, Pyloric stenosis, Micrognathia	OMIM:618458
Hennekam Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger, Craniosynostosis, Mal...	ORPHA:2136
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Wide anterior fontanel, Pyloric stenosis, Small bowel diverticula, Pathologic fracture	ORPHA:90349
Atresia Of Urethra	Abdominal distention, Pulmonary insufficiency	ORPHA:105
Alkaptonuria	Cartilage destruction, Calcification of cartilage	ORPHA:56
Peroxisome Biogenesis Disorder 4B	Short nose	OMIM:614863
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg...	OMIM:212093
Oculocerebrorenal Syndrome Of Lowe	Frontal bossing, Flat occiput, Micrognathia, Abnormal rib morphology, Hip dislocation, Genu valgu...	ORPHA:534
Penile Agenesis	Depressed nasal bridge, Cryptorchidism, Bilateral talipes equinovarus, Absent penis, Ambiguous ge...	ORPHA:49
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Preaxial hand polydactyly...	ORPHA:857
Chronic Granulomatous Disease	Pyloric stenosis, Tracheoesophageal fistula, Malabsorption	ORPHA:379
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Wide nasal bridge, Oligodontia, Short philtr...	OMIM:180500
Lipodystrophy, Familial Partial, Type 7	Small for gestational age, Narrow nasal ridge, Narrow mouth, Short nose, Failure to thrive	OMIM:606721
Goodpasture Syndrome	Cyanosis, Pulmonary hemorrhage, Anemia, Weight loss	OMIM:233450
Knobloch Syndrome	Pyloric stenosis, Depressed nasal bridge, Joint hyperflexibility	ORPHA:1571
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Cyanosis, Right ventricular failure, Low-outp...	ORPHA:99125
Reactive Arthritis	Cartilage destruction	ORPHA:29207
Congenital Tracheal Stenosis	Cyanosis	ORPHA:141127
Branchiooculofacial Syndrome	Depressed nasal bridge, Facial palsy, Broad nasal tip, Micrognathia, Malrotation of colon, Pylori...	OMIM:113620
Knobloch Syndrome 1	Depressed nasal bridge, Pyloric stenosis, Bulbous nose, Spina bifida occulta, Joint hypermobility	OMIM:267750
Mowat-Wilson Syndrome	Mandibular prognathia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomi...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Aganglionic megacolon, Bowel incontinence, Clef...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Cleft hard palate, Flexion contracture, Bifid uvula, Wide nasal bridge, Su...	ORPHA:261552
Pagod Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:991
Short Stature With Nonspecific Skeletal Abnormalities	Proportionate short stature	OMIM:616255

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 Npr2

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 Npr2.

No publications found that use IMPC mice or data for Npr2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Npr2^{tm380425(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Npr2^em1(IMPC)H	Exon Deletion	Mice

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us