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Gene: Zmpste24 MGI:1890508

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

zinc metallopeptidase, STE24

Synonyms:

A530043O15Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Zmpste24 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 Zmpste24 (5 diseases)
Human diseases predicted to be associated with Zmpste24 (2478 diseases)

The table below shows human diseases associated to Zmpste24 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat...	OMIM:608612
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Short stature, Abnormal fingertip morp...	ORPHA:90154
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Ankylosis, Sparse ...	OMIM:275210
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Sparse hair, Decreased skull ossification,...	ORPHA:1662

The table below shows human diseases predicted to be associated to Zmpste24 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dys...	ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Elevated circula...	OMIM:160500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Mazabraud Syndrome	Bone pain, Recurrent fractures	ORPHA:57782
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S...	ORPHA:53697
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Scapular winging, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Ina...	ORPHA:206546
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl...	OMIM:300718
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Short stature, Abnormality of the dentition, Syno...	ORPHA:3268
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:609308
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:277440
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypocalcemic Vitamin D-Dependent Rickets	Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag...	ORPHA:289157
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Dentin...	OMIM:259440
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Hepatomegaly, Hyperlordosis, Chorea, Right ventricular dilatation, Myopathy, Abnor...	ORPHA:369840
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Facial ...	OMIM:612954
Congenital Myopathy 2A, Typical, Autosomal Dominant	Waddling gait, Facial palsy, Frequent falls, Hyperlordosis, Rigidity, Spinal rigidity, Dilated ca...	OMIM:161800
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Elevated circulating creatine kinase concentr...	OMIM:616827
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:264700
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Waddling gait, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Centrall...	ORPHA:86812
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Elevated circulating creatine kinase concentration, A...	ORPHA:267
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Monosomy 5P	Microretrognathia, Finger syndactyly, Inguinal hernia, Short stature, Recurrent fractures, Short ...	ORPHA:281
Renpenning Syndrome	Mandibular prognathia, High, narrow palate, Short philtrum, Clinodactyly of the 5th finger, Alope...	ORPHA:3242
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Scoliosis, Hirsutism	OMIM:307150
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm...	OMIM:619795
Pycnodysostosis	Ridged nail, Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fon...	ORPHA:763
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:600081
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Carious t...	ORPHA:2501
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Osteogenesis Imperfecta, Type Xix	Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc...	OMIM:301014
Dpm3-Cdg	Dilated cardiomyopathy, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle...	ORPHA:263494
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Pectus excavatum, Kyphosis, Synophr...	ORPHA:2471
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Long fingers, Prog...	ORPHA:169186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Elevated circulating creatine kinase concentration, Facial...	OMIM:613156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Ventricular hypertrophy, Scapular winging, Elevated circulating creatine kinase concentration, Pr...	OMIM:601287
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Thoracic scoliosis, Elevated circ...	ORPHA:62
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine ki...	OMIM:167320
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac...	OMIM:613849
Grant Syndrome	Joint dislocation, Bowing of the long bones, Short stature, Micrognathia, Open bite, Abnormal cor...	ORPHA:2097
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventric...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Atrioventric...	ORPHA:98853
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Bone pain, Abnormal form of the vertebral bodies, Hypocalcemia, Genu varum, Al...	ORPHA:93160
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplat...	OMIM:618363
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ...	ORPHA:98855
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Smooth philtrum, Short stature, Abnormal dental...	ORPHA:1133
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Pectus carinatum, Enlarged thorax, Femoral bowing, Generalized hirs...	OMIM:614856
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac...	OMIM:610967
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating creat...	OMIM:255160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Micrognathia, Pectus e...	ORPHA:1979
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Waddling gait, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Unstea...	OMIM:612937
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Congenital Disorder Of Glycosylation, Type Ie	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contractu...	OMIM:608799
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Flynn-Aird Syndrome	Alopecia, Ataxia, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Type II diabetes...	ORPHA:2047
X-Linked Intellectual Disability, Stocco Dos Santos Type	Increased serum serotonin, Kyphosis, Small for gestational age, Hirsutism	ORPHA:85288
Marinesco-Sjogren Syndrome	Short metacarpal, Short stature, Elevated circulating creatine kinase concentration, Ataxia, Coxa...	OMIM:248800
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Familial Isolated Dilated Cardiomyopathy	Lipoatrophy, Elevated circulating creatine kinase concentration, Abnormality of neutrophils, Dila...	ORPHA:154
Filippi Syndrome	2-4 toe syndactyly, Cryptorchidism, Postnatal growth retardation, Hypertrichosis, Cutaneous synda...	OMIM:272440
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ...	OMIM:300376
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Upper limb muscle we...	ORPHA:171442
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Alopecia, Rhizomelia, Severe short statur...	OMIM:215100
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Scapular winging, Failure to thrive, Micrognathia, Hyperlordosis, Progressive muscl...	OMIM:600462
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Short neck, Micrognathia, Low ant...	ORPHA:800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Premature graying of h...	OMIM:619903
Candidiasis, Familial, 1	Abnormality of the endocrine system, Alopecia	OMIM:114580
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ...	OMIM:606685
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Elbow contracture, Elevated circulating creatine kinase concentration, Hype...	OMIM:620249
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mo...	ORPHA:337
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Alopecia, Severe short stature,...	OMIM:203550
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing...	OMIM:241530
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Hyperlordosis, Gowers sign, Progressive muscle weakness, Genera...	OMIM:620285
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Dilated cardiomyopathy, Abnormality of the ca...	ORPHA:59135
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha ...	ORPHA:206559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Exercise-ind...	OMIM:607155
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:611615
Myopathy, Distal, 3	Split hand, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abno...	OMIM:610099
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Kyphosis, Thick ...	OMIM:300602
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Abnormal clavicle morphology, Facial palsy, Generalized osteosclerosis, Cr...	ORPHA:3416
Congenital Muscular Dystrophy Due To Lmna Mutation	Poor head control, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of j...	ORPHA:157973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Facial palsy, Inability to walk, Flexion cont...	OMIM:613155
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:613818
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Ataxia, Kyphoscoliosis, Joint stiffness, Carious teeth,...	OMIM:136300
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Microretrognathi...	OMIM:616229
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Christianson Syndrome	Mandibular prognathia, Cachexia, Pectus excavatum, Abnormal thorax morphology, Ophthalmoplegia, G...	ORPHA:85278
Bethlem Myopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Limb-girdle musc...	ORPHA:610
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnor...	ORPHA:1486
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase ...	OMIM:310200
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Short stature, Highly arched eyebrow, Micrognathia, Cari...	OMIM:613684
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os...	ORPHA:2774
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Chorea, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Limb-girdle muscular dyst...	ORPHA:369847
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Abnormal finger morphology, Hypertonia, Short palm, Ataxia, Muscular dys...	ORPHA:559
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Muscular dystrophy, Elevated circulating creatine kinase concentration, Ventricular septal hypert...	OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Elevated circulating ...	OMIM:254110
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short stature, Short thorax, Abnormal rib morphology, ...	ORPHA:2484
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy, Muscular dystro...	OMIM:309930
Mucopolysaccharidosis Type 4	Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Hernia, Short stat...	ORPHA:582
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micro...	ORPHA:628
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, A...	OMIM:617952
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Paroxysmal atrial fibrillation, Elbow contracture, Elevated circulating creatine...	OMIM:613205
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Elevated circulating creatine kinase concentration, Gowers sign, Knee flexion contracture, Axial ...	OMIM:615290
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Femoral hernia, Recurrent fractures, Micromelia, Sh...	ORPHA:93299
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Ck Syndrome	Slender build, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, High palate,...	OMIM:300831
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Micrognathia, Onychauxis, Hyperconvex fingernails, Congenital onychodystrophy, Abnorm...	ORPHA:319195
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Prema...	OMIM:248370
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, Glucose intolerance, High palat...	OMIM:608612
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e...	OMIM:616294
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Pectus excavatum, Jo...	ORPHA:1388
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Short neck, Progressive muscle weakness, Synop...	ORPHA:488632
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Apl...	ORPHA:2769
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Camptocormia, Involuntary movements, Congestive heart failure, Chorea, Dilated ca...	OMIM:606703
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Desminopathy	Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ...	ORPHA:98909
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Short stature, Recurrent fractures, Facial palsy, Abnormality o...	ORPHA:53
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Elevated circulating creatine kinase concentration, Hyperlordosis, Pect...	OMIM:611588
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis, Anterior cervical hypertrichosis, Sacral hypertrichosis, Thoracic hypertrichosis,...	OMIM:117850
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Carious teeth...	ORPHA:93324
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme...	ORPHA:93267
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Short stature, Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle f...	OMIM:252011
Seckel Syndrome	Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia,...	ORPHA:808
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Inability to walk, Ankle clonus, High palate, Gait disturbance, Scoliosis, Joint contra...	OMIM:611225
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab...	ORPHA:436
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Short ...	ORPHA:3409
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Wormian bo...	OMIM:166210
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Glucose intolerance, Increased intraabdominal fat, High palate, Sp...	ORPHA:2457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Incr...	OMIM:611307
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Small for gestational ...	OMIM:216550
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Ataxia, Hypospadi...	OMIM:610198
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Flexion contract...	OMIM:603511
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Reduced bone ...	OMIM:618392
Geroderma Osteodysplastica	Beaking of vertebral bodies, Mandibular prognathia, Severe short stature, Recurrent fractures, Os...	ORPHA:2078
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ...	ORPHA:166016
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Short stature, Accessory oral frenulum, Short thorax, Osteolysis involving ...	ORPHA:88630
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Abnormal...	ORPHA:2050
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Mandibular prognathia, Sparse scalp hair, Recurrent fractures, Postnatal growth retar...	ORPHA:2324
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bowing of the legs, Micromelia, A...	OMIM:241500
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Geroderma Osteodysplasticum	Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Mandibular prog...	OMIM:231070
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnormal toe morphology, Obesity, Te...	ORPHA:459033
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Dental crowding, High palate, Microdontia, Broad ribs, Genu va...	OMIM:269300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, Tibial bowing, H...	ORPHA:251028
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co...	ORPHA:249
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar...	OMIM:609052
Spinal Muscular Atrophy, Jokela Type	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Spinal muscular atro...	OMIM:615048
X-Linked Intellectual Disability, Cabezas Type	Short neck, Synophrys, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, S...	ORPHA:85293
Myopathy, Scapulohumeroperoneal	Scapular winging, Neck flexor weakness, Facial palsy, Hyperlordosis, Increased connective tissue,...	OMIM:616852
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, High palate...	ORPHA:93315
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Curly hair, Broad femoral n...	ORPHA:85184
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morphology, Cor...	ORPHA:1328
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala...	ORPHA:163649
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Tip-toe gait, Muscular dys...	OMIM:254130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller t...	OMIM:300580
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat...	ORPHA:603
L-Ferritin Deficiency	Alopecia	OMIM:615604
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Short neck, Micrognathia, Multiple prenatal fractures, Flexion contractu...	OMIM:616897
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, Progressive muscle weakness, Flexion c...	ORPHA:2020
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase...	OMIM:619424
Oliver-Mcfarlane Syndrome	Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, L...	OMIM:275400
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Diabetes mellitus, Short stature, Abnormal hair pattern, Abn...	ORPHA:2315
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased connective...	OMIM:253601
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Thin upper lip vermilion, Failure to thrive in infancy, Cachexia, Ta...	OMIM:616801
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Sparse hair, Joint contracture, Joint laxity, Short stature, Increased susceptibility...	OMIM:615349
Marshall-Smith Syndrome	Bowing of the long bones, Failure to thrive, Craniosynostosis, Protruding tongue, Accelerated ske...	ORPHA:561
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac...	OMIM:254090
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Tapered finger, O...	ORPHA:401923
Hall-Riggs Syndrome	U-Shaped upper lip vermilion, Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Thick...	OMIM:234250
Muscular Dystrophy, Congenital, 1B	Facial palsy, Elevated circulating creatine kinase concentration, Spinal rigidity, Achilles tendo...	OMIM:604801
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphys...	OMIM:177170
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduce...	OMIM:166220
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Short neck, Cryptorchidism, Postaxial ha...	OMIM:235255
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr...	OMIM:619719
Carvajal Syndrome	Woolly hair, Dilated cardiomyopathy, Congestive heart failure, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Reduced subcutaneous adipose tissue, Short stature, Dilated cardiomyopathy, Decreased body weight...	OMIM:618097
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Nicolaides-Baraitser Syndrome	Joint dislocation, Accelerated skeletal maturation, High, narrow palate, Abnormal finger morpholo...	ORPHA:3051
Winchester Syndrome	Arthropathy, Kyphosis, Hirsutism, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal ...	OMIM:277950
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion...	ORPHA:536516
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hai...	OMIM:608154
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c...	OMIM:615980
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal...	ORPHA:98897
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr...	ORPHA:40
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Myopathy, Aplasia of the middle phalanx of the hand, Clinodac...	OMIM:610140
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Familial Dyskinesia And Facial Myokymia	Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w...	ORPHA:324588
Silver-Russell Syndrome	Dental crowding, Micrognathia, Downturned corners of mouth, Abnormal appendicular skeleton morpho...	ORPHA:813
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, V...	OMIM:606612
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Short stature, Right ventricular failur...	ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Short stature, Elevated circulating creatine kinase concentration, Facial palsy, Achilles tendon ...	OMIM:608840
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Cachexia, Short neck, Sparse ...	ORPHA:884
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye...	ORPHA:73
Rhizomelic Syndrome, Urbach Type	Short neck, Micrognathia, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb...	ORPHA:3098
Duchenne Muscular Dystrophy	Waddling gait, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Prog...	ORPHA:98896
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Metaphyseal widening,...	OMIM:271640
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Dilated ca...	ORPHA:272
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Ventricular septal defect, Short stature, Dilated cardiomyopathy, Clinodactyly of the...	ORPHA:2515
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Recurrent fractures, Generalized muscle weakness, Bone pain, Gait ...	ORPHA:329475
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ...	OMIM:257850
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Short neck, Cryptorchidism, Postaxial ha...	ORPHA:1655
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Pectus excavatum, Micrognathia, Short neck, Thin vermilion ...	ORPHA:1438
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic toenails, S...	OMIM:166250
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Mucopolysaccharidosis-Plus Syndrome	Short neck, Synophrys, Metaphyseal widening, Low anterior hairline, Flexion contracture, Leukopen...	OMIM:617303
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Prominent fingertip pads, Persistent fetal circulation, Tricuspid ...	OMIM:612863
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Cranioectodermal Dysplasia	Narrow chest, Sparse hair, Clinodactyly of the 5th finger, Microdontia, Abnormal toenail morpholo...	ORPHA:1515
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Eosinophilia, Elevated circulating creatine kinase concentration, Fac...	OMIM:253600
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating cr...	OMIM:614727
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Spinal ...	ORPHA:598
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Severe short stature, Hyperlordosis, Pectus excavatum, Abno...	ORPHA:2511
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping	OMIM:614369
Zimmermann-Laband Syndrome 3	Synophrys, Flexion contracture, Low anterior hairline, High palate, Triphalangeal thumb, Bifid uv...	OMIM:618658
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Microg...	OMIM:255800
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, 2-3 f...	ORPHA:3152
Bruck Syndrome 2	Osteopenia, Inguinal hernia, Short stature, Flexion contracture, Elbow flexion contracture, Femor...	OMIM:609220
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Increased...	ORPHA:1798
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint mobility, ...	ORPHA:177
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening...	OMIM:252500
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Elevated circulating creatine kinase concentration, Shoulder girdle muscle weak...	OMIM:310095
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration...	OMIM:613723
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Short stature, Increased connective tissue, Scarring alopecia of scalp, Mothe...	OMIM:226670
Spondyloepiphyseal Dysplasia, Stanescu Type	Waddling gait, Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, ...	OMIM:616583
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit...	OMIM:608423
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dil...	OMIM:618120
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Proximal muscle weakness, K...	OMIM:616471
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Short stature, Metaphyseal widening...	ORPHA:2788
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger...	ORPHA:3082
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Short thumb, Alopecia, Short stature	OMIM:188150
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Upper li...	ORPHA:309169
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Ataxia, Increased adipose tissue, Congestive heart failure, Dilated car...	ORPHA:1349
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Ataxia, Tremor, Obesity, Limb dystonia, Bilateral coxa valga, Intrauterine growth retardation, Hy...	OMIM:620270
Miyoshi Muscular Dystrophy 3	Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ...	OMIM:613319
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Lipoatrophy, Micrognathia, Carious teeth, Kyphosis,...	ORPHA:2617
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Distal muscle weakness, Short stature, Elevated circulating creatine kinase concen...	ORPHA:52430
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Limb joint contracture, Facial palsy, Lumbar hyperlordosis, Centrally...	OMIM:255310
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Elevated circulating creatine kinase concentration, Spinal rigidity, Short neck, Kyphos...	ORPHA:75840
Microcephaly-Cardiomyopathy	Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap	OMIM:251220
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Oligodon...	ORPHA:391408
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo...	OMIM:619131
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	OMIM:615084
Pycnodysostosis	Ridged nail, Increased bone mineral density, Brachydactyly, Short stature, Persistent open anteri...	OMIM:265800
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Short stature, Cortical scleros...	OMIM:122860
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Pili torti, Sparse body hair, Aplasia/Hypoplasia...	ORPHA:202
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys...	OMIM:300232
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem...	ORPHA:276435
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Camptodactyly of finger, Short stature, Micrognathia, Malar prominence, Kyphosis, A...	ORPHA:48431
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Left ventricular diastolic dysfu...	ORPHA:171445
Greenberg Dysplasia	Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Patchy variation in bone minera...	OMIM:215140
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Thin upper lip vermilion, Tented upper lip vermilion, Arachnodactyly, Short stat...	ORPHA:371364
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Progressive proximal muscle weakness, Split hand, Steppage ga...	ORPHA:399086
Alg9-Cdg	Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, Nar...	ORPHA:79328
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Tibial bowing, Short pal...	OMIM:601812
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Cardiomyopathy, ...	OMIM:609200
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Femoral-Facial Syndrome	Maternal diabetes, Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplas...	ORPHA:1988
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Waddling gait, Short metaca...	OMIM:607326
Hypophosphatasia, Childhood	Waddling gait, Short stature, Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of ...	OMIM:241510
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Gait disturbance	ORPHA:34587
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin...	ORPHA:352447
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomy...	OMIM:602541
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism	OMIM:604931
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912
Typical Nemaline Myopathy	Neck flexor weakness, Elevated circulating creatine kinase concentration, Short neck, Micrognathi...	ORPHA:171436
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Accelerated skeletal matur...	OMIM:245600
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Narrow chest, Dysplastic ...	OMIM:613320
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Congenital Disorder Of Glycosylation, Type Ij	Micrognathia, Cryptorchidism, Flexion contracture, Clinodactyly of the 5th finger, Hypoproteinemia	OMIM:608093
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o...	OMIM:619705
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Waddling gait, Hyper...	OMIM:156400
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed e...	ORPHA:2409
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ...	ORPHA:98902
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Severe short stature, Abnormal dental morphology, Camptodactyly of f...	ORPHA:2251
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Thick l...	ORPHA:2058
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Brittle hair, Micrognathia, Abnormal form of...	ORPHA:2710
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger cl...	ORPHA:2958
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Hypophosphatasia, Adult	Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss...	OMIM:146300
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	ORPHA:3363
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Progressive ...	ORPHA:399103
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Toe syndactyly, Congenital hip dislocation, Supernumerary n...	ORPHA:217346
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Progressive ...	ORPHA:399096
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Small for gestational age, Fatiguable weakness of proximal limb muscles, Gowers sign, Cryptorchid...	ORPHA:319332
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp...	OMIM:235510
Achondrogenesis Type 1B	Severe short stature, Femoral hernia, Micromelia, Short neck, Abnormal enchondral ossification, M...	ORPHA:93298
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Dysmetria, Sparse hair, Micropenis, Hypothyroidism, Ataxia, Short stature, Crypto...	OMIM:616541
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High...	OMIM:309583
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ...	OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respiratory insufficiency due to muscle w...	OMIM:611890
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr...	OMIM:601214
Myopathy And Diabetes Mellitus	Inability to walk, Progressive proximal muscle weakness, Achilles tendon contracture, Progressive...	ORPHA:2596
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardio...	OMIM:617022
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Small for gestational age, Highly arched eyebrow, Microgna...	OMIM:614541
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Familial Expansile Osteolysis	Bowing of the long bones, Bone pain, Osteolysis, Pathologic fracture, Premature loss of teeth, Th...	OMIM:174810
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Ataxia, Kyphosis, Synophrys, Cleft palate, Short ...	ORPHA:85317
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Inability to walk, Broad-based gait, Recurrent fractures	OMIM:619884
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, High pa...	OMIM:618393
Autosomal Recessive Hypophosphatemic Rickets	Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, S...	ORPHA:289176
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Inability to walk, Spinal ri...	OMIM:617066
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Short stature, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Congenital Myopathy 3 With Rigid Spine	Short stature, Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion...	OMIM:602771
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart ...	OMIM:230500
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Rothmund-Thomson Syndrome	Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Sparse hair, Microdontia, Abn...	ORPHA:2909
Stuve-Wiedemann Syndrome 1	Enlarged joints, Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contractur...	OMIM:601559
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Decreased hip abduction, Shoulder flexion contracture, Progressive muscle weakne...	OMIM:605355
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Juvenile Paget Disease	Abnormal clavicle morphology, Bowing of the long bones, Short stature, Recurrent fractures, Abnor...	ORPHA:2801
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, B...	ORPHA:955
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Distal Myotilinopathy	Multiple joint contractures, Progressive distal muscle weakness, Elevated circulating creatine ki...	ORPHA:98911
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Short stature, Dilated cardiomyopathy, Spastic paraplegia, Renal hypoplasia...	ORPHA:254913
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Obe...	OMIM:615981
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteosclerosis, Fracture...	OMIM:166600
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615350
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l...	OMIM:102500
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Rin2 Syndrome	Sparse scalp hair, Irregular dentition, Cryptorchidism, Hirsutism, Gingival overgrowth, Increased...	ORPHA:217335
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin...	OMIM:126550
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Distal muscle weakness, Micrognathia, Spinal rigidity, Pr...	OMIM:618524
Alpha-B Crystallin-Related Late-Onset Myopathy	Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle...	ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:613530
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Fl...	OMIM:130070
Three M Syndrome 1	Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of...	OMIM:273750
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con...	ORPHA:732
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Shor...	ORPHA:61
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Reduced systolic function, Microcyt...	OMIM:618805
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc...	ORPHA:3352
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Failure to thrive in ...	ORPHA:254875
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Galloway-Mowat Syndrome 7	Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Ventricular septal defect, Proteinuri...	OMIM:618348
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan...	OMIM:616730
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Barth Syndrome	Failure to thrive, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cycl...	OMIM:302060
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Micrognathia, Flexion contracture, 2-3 toe syndactyly, Gingival...	OMIM:618186
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:616094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Low anterior hairline, Elevated circulating creatine kinase concent...	OMIM:613153
Kerion Celsi	Alopecia	ORPHA:499
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Elevated circulating creatine kinase concentration, Mitochondrial hypertrophy, Pro...	OMIM:619518
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Thick hair, Kyphosis, Synophrys, Low posterior h...	ORPHA:2429
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Patellar hypoplasia, High palate, Sparse hair, Microdontia, Short ...	ORPHA:221016
Hamamy Syndrome	Osteopenia, Micrognathia, High palate, Sparse hair, Clinodactyly of the 5th finger, Abnormal numb...	OMIM:611174
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Distal muscle weakness, Slender build, Short stature, Genu r...	ORPHA:364028
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Rigidity, Hypertonia, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:613869
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Enlarged joints, ...	OMIM:313420
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Inguinal hernia, Severe short stature, Rhizomelia, Failure to thriv...	ORPHA:2645
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Short neck, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Infantile Refsum Disease	Short stature, Facial palsy, Ataxia, Progressive muscle weakness, Elevated circulating phytanic a...	ORPHA:772
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Cdkl5-Deficiency Disorder	Hallux valgus, Poor head control, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Deep...	ORPHA:505652
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Lipodystrophy, Elevated c...	OMIM:613327
Gm1 Gangliosidosis	Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hirsutism, Ataxi...	ORPHA:354
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Elevated circulating creatine kinase concentration, Ankle flexion contra...	OMIM:617072
Gapo Syndrome	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral...	ORPHA:2067
Dpm1-Cdg	Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Sandal gap, Hepatosplen...	ORPHA:79322
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Narrow chest,...	ORPHA:289
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Kyphoscoliosis, Flexion contracture, Increase...	OMIM:607855
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Osteopathia Striata-Cranial Sclerosis Syndrome	Micrognathia, High, narrow palate, Large iliac wing, Spina bifida occulta, Bifid uvula, Increased...	ORPHA:2780
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Chst3-Related Skeletal Dysplasia	Enlarged joints, Flexion contracture, Abnormal form of the vertebral bodies, Barrel-shaped chest,...	ORPHA:263463
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Cardiomegaly, Syn...	OMIM:300280
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Short stature, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes...	OMIM:615502
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Pectus excavatum, Kyphosis, Obesity, Pectus carinatum, Large hands...	ORPHA:276630
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F...	ORPHA:2985
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Lympha...	OMIM:615895
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly...	ORPHA:137834
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Sco...	OMIM:147060
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Adducted thumb, Hydrocele testis, Notched primary central incis...	OMIM:620062
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, ...	ORPHA:79159
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular...	OMIM:619489
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ...	ORPHA:83468
Pulmonary Blastoma	Weight loss	ORPHA:64741
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Inc...	OMIM:166200
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Ataxia, Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Narrow m...	OMIM:620007
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Aplasia/Hypoplasia of the clavicles, Alopecia, Short stature, Abnormal fingertip morp...	ORPHA:90154
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Abnormal rib morphology, Cleft...	ORPHA:1703
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Proximal muscle weakness, Abnormality of the tarsal bones, Fibro...	ORPHA:352540
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Alopecia, Small for gestational age,...	ORPHA:2959
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Carious ...	OMIM:244460
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Short stature, Recurrent fractures, Micrognathia, Vertebral compressio...	OMIM:112240
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Wormian bones, Kyphoscoliosis, Highly arched e...	OMIM:618644
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Elevated circulating creatine kinase concentration, Muscular dystrophy...	OMIM:613158
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Dentinogenesis i...	OMIM:616507
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate...	ORPHA:1354
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Short neck, Pectus excavatum, Micrognathia, Carious teet...	ORPHA:1598
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Coxa vara, Pectus carinatum, Narrow greater sciatic notch, Club-shaped proximal femur, Hyperlordo...	OMIM:184250
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Childhood-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Mildly ele...	ORPHA:171439
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f...	ORPHA:828
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin...	OMIM:619565
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology, Muscle weakness	ORPHA:100073
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora...	ORPHA:89936
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Abnormal left ventricular function, Vesicouret...	ORPHA:3208
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micr...	ORPHA:536532
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:613152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Omphalocele, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteol...	ORPHA:371428
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Short stature, Hyperlordosis, Pectus ex...	ORPHA:2522
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Severe short stature, Abnormal dental enamel morpholo...	ORPHA:1005
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Scoliosis, Spar...	ORPHA:2850
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia...	OMIM:618815
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Barth Syndrome	Dilated cardiomyopathy, Abnormality of neutrophils, Endocardial fibroelastosis	ORPHA:111
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur...	OMIM:612079
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilated cardi...	OMIM:605676
Cerebellofaciodental Syndrome	Short stature, Tapered finger, Short neck, Sparse eyebrow, Cryptorchidism, Delayed skeletal matur...	OMIM:616202
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom...	OMIM:255100
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr...	OMIM:613151
Lymphangiectasia, Intestinal	Abnormal hair morphology, Prominent floating ribs, Neonatal hypoproteinemia	OMIM:152800
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Short neck, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Mandibul...	ORPHA:1832
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Lower limb spasticity, Hypoplasia of penis, Diaphragmatic eventration, Ata...	ORPHA:66634
Cog7-Cdg	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Abno...	ORPHA:79333
Tuberculosis	Weight loss	ORPHA:3389
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	OMIM:610717
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con...	OMIM:158900
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap...	ORPHA:93307
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu...	OMIM:156550
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morpho...	ORPHA:2461
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Reduced bon...	ORPHA:2108
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Micrognathia, Increased vertebral height, Gait ataxia, Downturned corners of mouth, Recurrent hyp...	OMIM:616817
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re...	ORPHA:254892
Alstrom Syndrome	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	OMIM:203800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Ketotic hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:79240
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1...	ORPHA:98905
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Short stature, Recurrent fractures, Kyphoscoli...	OMIM:163200
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C...	OMIM:613157
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical...	OMIM:613573
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Hypogonadism, Gait disturbance, Congenital muscular dystroph...	ORPHA:1875
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Mycetoma	Back pain, Abnormality of the knee, Osteomyelitis, Abnormal thorax morphology, Bone cyst, Osteopo...	ORPHA:2583
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Congenital hip dislocation, Persistent open anterior fontanelle, Thick hair, Del...	ORPHA:357058
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Long philtrum, Abnormal p...	ORPHA:1389
Macs Syndrome	Irregular dentition, Micrognathia, High palate, Sparse hair, Decreased body weight, Joint laxity,...	OMIM:613075
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Rothmund-Thomson Syndrome Type 1	Osteopenia, Patellar hypoplasia, Sparse hair, Microdontia, Short phalanx of finger, Genu varum, C...	ORPHA:221008
Intermediate Nemaline Myopathy	Facial palsy, Multiple prenatal fractures, High, narrow palate, Abnormal thorax morphology, Flexi...	ORPHA:171433
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Poor head control, Metaphyseal spurs, Short stature, Decrea...	OMIM:309400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Arachnodactyly, Cachexia, Joint stiffness	ORPHA:1144
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Metatarsus adductus, Cryptorchidism, Abnormal heart morphology, Joint contracture o...	OMIM:214110
Arthrochalasia Ehlers-Danlos Syndrome	Joint dislocation, Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue,...	ORPHA:1899
Isolated Congenital Hypoglossia/Aglossia	Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei...	ORPHA:141152
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Low plasma citrulline, Hypoprolinemia, Sparse hair, Short stature, Cr...	OMIM:219150
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Ataxia, Metaphyseal sclerosis, Postnatal gro...	OMIM:612199
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Micromelia, Short neck, Abnormal thumb morpholog...	ORPHA:1842
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis...	OMIM:617404
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Broad-based gait, Cryptorchidism, Synophrys, Downturned corners of mout...	OMIM:618067
Liang-Wang Syndrome	Thin upper lip vermilion, Ataxia, Diastema, Synophrys, Gingival overgrowth, Downturned corners of...	OMIM:618729
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ...	ORPHA:609
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kin...	OMIM:615351
X-Linked Charcot-Marie-Tooth Disease Type 3	Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Inability to walk, Intrinsic hand mus...	ORPHA:101077
Infantile Systemic Hyalinosis	Osteopenia, Severe short stature, Abnormal dental morphology, Osteomalacia, Camptodactyly of fing...	ORPHA:2176
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele...	OMIM:602535
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc...	OMIM:608728
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Ataxia-Telangiectasia	Conjunctival telangiectasia, Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus...	OMIM:208900
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Three M Syndrome 2	Short neck, Pectus carinatum, High palate, Intrauterine growth retardation, Scapular winging, Lum...	OMIM:612921
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive	OMIM:619651
Muscular Dystrophy, Congenital, With Or Without Seizures	Ataxia, Elevated circulating creatine kinase concentration, Proximal muscle weakness, Progressive...	OMIM:620166
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Hypoplasia of the thymus, Atrial septal defect, Intrauterine...	ORPHA:84064
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Short neck, Micrognathia, Limited elbow movement, Synophrys, Low ant...	OMIM:300590
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Hernia, Atrial s...	ORPHA:505248
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Scoliosis, Joint contracture, Delayed...	OMIM:615704
Richieri Costa-Da Silva Syndrome	Joint dislocation, Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Abnormality of...	ORPHA:3101
Björnstad Syndrome	Alopecia, Brittle hair, Hypogonadism	ORPHA:123
Refractory Celiac Disease	Osteoporosis, Weight loss, Hypophosphatemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypop...	ORPHA:398063
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, High, narrow ...	OMIM:180849
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Dental crowding, Short stature, Micromelia, Kyphosis, Cryptorc...	OMIM:180870
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Distal muscle weakness, Elevated circulating creatine kinase concentration, Hype...	OMIM:600175
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Micrognathia, K...	OMIM:615834
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated car...	ORPHA:367
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspondyly, Thoraci...	OMIM:619638
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Distal Myopathy With Anterior Tibial Onset	Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive proximal muscle weakness, Abno...	ORPHA:178400
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnorma...	ORPHA:2145
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D...	ORPHA:1882
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum,...	OMIM:271650
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Metaphyseal widening, Osteoarthritis, Coxa vara, Sclerotic verte...	OMIM:208230
Marbach-Rustad Progeroid Syndrome	Smooth philtrum, Reduced subcutaneous adipose tissue, Femur fracture, Short stature, Delayed erup...	OMIM:619322
Neonatal Severe Primary Hyperparathyroidism	Abnormal metaphysis morphology, Recurrent fractures, Narrow chest, Short stature	ORPHA:417
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Cryptorchidism, Abnormal rib morphology, Joint hyperflexibility,...	ORPHA:2772
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decrea...	OMIM:618265
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Limited wr...	ORPHA:641
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory...	OMIM:255200
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short palm, Broad-based gait, Thoracic scoliosis, Ataxia, Short stature, Tremor, Small hand, Dysm...	OMIM:610185
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Downturned corners of...	ORPHA:2643
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Dental crowding, Micrognathia, Gowers sign, Synophrys, Axial muscle weakness,...	OMIM:620351
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, Knee dislocation,...	OMIM:615777
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Finger syndactyly, Alope...	ORPHA:3253
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Progressive external ophthalmoplegia, Ataxia, Cachexia, Generalized muscle weakness, Weight loss,...	OMIM:613662
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Obesity, Everted lower lip vermilion, Thick vermilio...	ORPHA:1193
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Lumbar hyperlordosis, Short stature, Ataxia, Kyphosis, Inability...	OMIM:616756
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus excavatum, Multiple prenatal fractures, Pectus carinatum, Decreased calvarial ossification...	OMIM:259410
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Abnormality of ex...	ORPHA:79262
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Short Syndrome	Alopecia, Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Inguinal he...	ORPHA:3163
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Hypoglycemia, Short stature, Micrognathia, ...	ORPHA:73272
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Inguinal h...	ORPHA:444072
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M...	ORPHA:2863
Wieacker-Wolff Syndrome	Proximal placement of thumb, Short neck, Micrognathia, High palate, Narrow chest, Short stature, ...	OMIM:314580
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Vocal cord paralysis, ...	ORPHA:98863
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Lar...	ORPHA:73230
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Tapered finger, Hypoplastic toenails, Hypogeu...	ORPHA:2930
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hyperconvex fingernails, Downturned corners of mouth, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Hypoproteinemia, Abnormal hair quantity	ORPHA:1116
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Schaaf-Yang Syndrome	Mandibular prognathia, Clinodactyly, Flexion contracture, Short stature, Tapered finger, Cryptorc...	OMIM:615547
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Bannayan-Riley-Ruvalcaba Syndrome	Abdominal wall muscle weakness, Hypoglycemia, Short stature, Cachexia, Micrognathia, Pectus excav...	ORPHA:109
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Elevated circulating acylcarnitine concentration, Co...	ORPHA:99901
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Hyperlordosis, ...	ORPHA:258
Seckel Syndrome 1	Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal...	OMIM:210600
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, Hypoplasia of the...	ORPHA:231226
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Ataxia, Poliosis, Kyphosis, Dental malocclusion, Patch...	OMIM:141300
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine...	ORPHA:329478
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, Br...	OMIM:614450
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Waddling gait, Short stature, Osteomalacia, Bowing of the legs, Increased circulating beta-C-term...	ORPHA:157215
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Hyperconvex f...	ORPHA:192
Hypomelanosis Of Ito	Syndactyly, Alopecia, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydac...	OMIM:300337
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Severe short stature, Highly arched eyebrow, Short t...	ORPHA:2319
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Patent ductus arterio...	OMIM:614857
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Gowers sign, Limb-girdle muscle weakness, Ach...	ORPHA:254361
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, He...	ORPHA:2180
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Gene...	ORPHA:317
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Calcaneovalgus deformity, Obe...	ORPHA:93952
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C...	OMIM:612541
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis,...	OMIM:300434
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spasticity, Hyperhidrosis, Abnormality of extrapyra...	OMIM:614299
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme...	OMIM:618387
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Micrognathia, K...	ORPHA:352490
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi...	OMIM:234100
Multicentric Reticulohistiocytosis	Arthritis, Muscle weakness, Cachexia	ORPHA:139436
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Short stature, Facial palsy, Hyperlordosis, Delayed skeletal maturatio...	ORPHA:3068
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short stat...	ORPHA:280679
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Prominent U wave, Abnormal T-wave, Periodic hypokalemic paresis,...	ORPHA:37553
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital dia...	ORPHA:1488
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Short neck, Micrognathia, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn...	OMIM:255320
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Short neck, Micrognathia, Synophrys, Low anterior hairline, Downturn...	OMIM:300882
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Tapered finger, Multiple joint d...	OMIM:618395
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retard...	ORPHA:254531
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Distal muscle weakness, Short stature, Ataxia, Kyphosis, Ophthalmoplegia, Split hand, High, narro...	OMIM:618124
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Short stature, Osteomalacia, Recurrent fractures, B...	OMIM:300554
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Broad hallux, Delayed cranial suture closure, 1-3 toe synd...	OMIM:175700
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos...	OMIM:224690
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Proximal muscle weakn...	ORPHA:42
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Insuli...	ORPHA:401768
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Talipes equ...	OMIM:617087
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:619024
Huntington Disease-Like 2	Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dystonia	ORPHA:98934
Kbg Syndrome	Vertebral fusion, Thin upper lip vermilion, Persistent open anterior fontanelle, Macrodontia, Sho...	ORPHA:2332
Ruvalcaba Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Pectus carinatum, Narrow chest, Clinoda...	ORPHA:3121
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Short stature, Elevated circulating creatine kinase concentra...	ORPHA:264580
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Wieacker-Wolff Syndrome, Female-Restricted	Short neck, Flexion contracture, Downturned corners of mouth, Narrow chest, Microretrognathia, Ra...	OMIM:301041
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal eyebrow morphology, Short stature, Abnorm...	ORPHA:90153
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Myofibrillar Myopathy 10	Mandibular prognathia, Sandal gap, Elevated circulating creatine kinase concentration, Ankle flex...	OMIM:619040
Paget Disease Of Bone 6	Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, Anemia of inadequ...	ORPHA:231214
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Ane Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior p...	ORPHA:157954
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Hyperkeratosis, Sync...	OMIM:615821
Proteus Syndrome	Kyphoscoliosis, Open mouth, Mandibular hyperostosis, Spinal canal stenosis, Multiple lipomas, Lip...	OMIM:176920
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Ataxia, Abnormal dental enamel morp...	ORPHA:10
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Rett Syndrome	Short stature, Cachexia, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ataxia, Short...	OMIM:312750
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Weight loss, Abnormal s...	ORPHA:157941
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Anauxetic Dysplasia 1	Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped ches...	OMIM:607095
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Abnormal bone o...	ORPHA:93323
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Dicarboxylic aciduria, P...	ORPHA:71212
Menkes Disease	Micrognathia, Narrow chest, Hernia, Sparse hair, Intrauterine growth retardation, Osteoporosis, J...	ORPHA:565
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Neonatal epiphyseal stippling, Flexion contracture, Coarse hair, High...	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Elevated circulating creatine kinase conce...	OMIM:253800
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Hyp...	OMIM:128100
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m...	ORPHA:550
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu...	OMIM:241600
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype...	OMIM:615761
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, R...	OMIM:619902
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert...	ORPHA:958
Trichorhinophalangeal Syndrome Type 1	Micrognathia, Short metatarsal, Pectus carinatum, High palate, Sparse hair, Clinodactyly of the 5...	ORPHA:77258
Myopathy, Myofibrillar, 4	Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak...	OMIM:609452
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Acrofacial Dysostosis, Catania Type	Coarse hair, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Microretrognathia,...	ORPHA:1786
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Spondyloepimetaphyseal Dysplasia, Missouri Type	Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthr...	OMIM:602111
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Flexion contracture, Babinski sign, Spasticity, Hammertoe, Steppage gait, Distal amyotrop...	OMIM:609260
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Absent...	ORPHA:3258
Trisomy 18	Congenital diaphragmatic hernia, Abnormality of the fontanelles or cranial sutures, Hernia, Abnor...	ORPHA:3380
Coffin-Siris Syndrome 6	Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum...	OMIM:617808
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi...	OMIM:607459
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy, Gait ataxia	OMIM:253590
Myopathy, Myofibrillar, 8	Scapular winging, Elevated circulating creatine kinase concentration, Spinal rigidity, Pectus exc...	OMIM:617258
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	OMIM:619647
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ele...	ORPHA:370959
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Macrogloss...	ORPHA:1423
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila...	ORPHA:2229
Autosomal Recessive Spastic Paraplegia Type 77	Poor head control, Kyphoscoliosis, Bilateral cryptorchidism, Scissor gait, Hip dysplasia, Loss of...	ORPHA:466722
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Abnormality of the dentition, Kyphosis, Delayed skeletal maturat...	ORPHA:1548
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno...	ORPHA:2314
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Dilated cardiomyopathy, Palmopl...	OMIM:613989
Myopathy With Extrapyramidal Signs	Elevated circulating creatine kinase concentration, Clonus, Short neck, Tremor, Chorea, Choreoath...	OMIM:615673
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti...	ORPHA:77297
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec...	OMIM:108721
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Abnormality of hair pi...	ORPHA:90354
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Accelerated skeletal maturation, Synophrys, High palate, Clin...	OMIM:605130
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Large posterior fontanelle, Micrognathia, Absent eyebrow, Abnormal ...	ORPHA:85199
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mantle Cell Lymphoma	Weight loss	ORPHA:52416
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Sparse hair, Short st...	OMIM:212066
Schneckenbecken Dysplasia	Micromelia, Short neck, Lateral clavicle hook, Hypoplastic toenails, Accelerated skeletal maturat...	ORPHA:3144
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Short stature, Down-sloping shoulders, Lipodystrophy, Micrognathia, Pect...	OMIM:616200
Hao-Fountain Syndrome	Hallux valgus, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger, Delayed cranial...	OMIM:616863
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Diabetes mellitus, Proximal muscle weakness, Progressive mu...	OMIM:609286
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Distal muscle weakness, Interphalangeal joint contracture of finger, Kyphoscolio...	ORPHA:1145
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ...	OMIM:610768
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy, Ataxia, Spastic paraplegia	OMIM:619688
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Parakeratos...	ORPHA:398124
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Cofs Syndrome	Prominent metopic ridge, Short stature, Camptodactyly of finger, Joint stiffness, Micrognathia, S...	ORPHA:1466
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ...	OMIM:151210
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il...	OMIM:215045
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2962
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Elevated 8(9)-cholestenol, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Ab...	OMIM:302960
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst, Gait disturbance	OMIM:618193
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v...	ORPHA:70591
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, I...	OMIM:615830
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele...	ORPHA:1822
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Small for gestational age, Dental crowding, Short stature, Postnatal growth retarda...	ORPHA:231140
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Short Chain Acyl-Coa Dehydrogenase Deficiency	Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration...	ORPHA:26792
Spondylometaphyseal Dysplasia, Sedaghatian Type	Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow ches...	OMIM:250220
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo...	OMIM:206920
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Autoamputation of digits, Distal muscle weakness, Hypoglycemia, Short stature, Ataxia, Broad-base...	OMIM:256810
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormalit...	ORPHA:464329
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Ataxia, Kyphosis, Choreoa...	ORPHA:702
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Hirsutism, Premat...	OMIM:612847
Dk1-Cdg	Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter...	ORPHA:91131
Diencephalic Syndrome	Large hands, Everted lower lip vermilion, Cachexia, Decreased body weight	ORPHA:1672
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Short stature, Osteomalacia, Recurrent fractures, B...	OMIM:300009
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High palate, Clinodactyly ...	OMIM:210730
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, External ophthalmoplegia, Gait ataxia, Weight loss, Failure to thrive	OMIM:612075
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia,...	OMIM:114290
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulders, Lipodystr...	OMIM:212112
Fibrosis Of Extraocular Muscles, Congenital, 3C	Thin upper lip vermilion, Highly arched eyebrow, Pectus excavatum, Kyphosis, Restrictive partial ...	OMIM:609384
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h...	OMIM:171480
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Low posterior hair...	ORPHA:2345
Vici Syndrome	Lymphopenia, Hypopigmentation of hair, Failure to thrive, Elevated circulating creatine kinase co...	OMIM:242840
Cantú Syndrome	Short neck, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, Broad ribs, Gen...	ORPHA:1517
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Short neck, Microgn...	OMIM:224400
Amyotrophic Lateral Sclerosis 8	Loss of ambulation, Progressive muscle weakness, Distal muscle weakness, Proximal muscle weakness	OMIM:608627
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Temple Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Bifid uvula, Short stature, Overw...	OMIM:616222
Mucolipidosis Iii Gamma	Short stature, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Flat cap...	OMIM:252605
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Autop...	OMIM:164310
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus excavatum, Mul...	OMIM:271225
Juvenile Amyotrophic Lateral Sclerosis	Distal muscle weakness, Neck flexor weakness, Ataxia, Cachexia, Proximal muscle weakness, Inabili...	ORPHA:300605
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Micropenis, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Portal h...	OMIM:619487
Achondroplasia	Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Synophrys, Flexion contracture, Abnormal form of the vertebral bodi...	ORPHA:581
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Maturity-onset diabetes of the young, Micrognathia, Pos...	ORPHA:96184
Shox-Related Short Stature	Short stature, Short neck, Micrognathia, Madelung deformity, Obesity, Tibial bowing, Short foot, ...	ORPHA:314795
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Progressive distal muscular atrophy, Elevated circulating creatine kinas...	OMIM:159950
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Syn...	OMIM:213980
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Inguinal hernia, Pectus excavat...	OMIM:612940
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Decreased body weight, Failure to thrive, Decreased serum iron, Dilated ...	ORPHA:89842
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Axial muscle weakness, Bell-shaped tho...	ORPHA:178148
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss, Elevated carcinoembryonic antigen level, Adre...	ORPHA:100083
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Ataxia, Tricuspid regurgitation, Left ventricular systolic dysfunction, ...	OMIM:619167
Meckel Syndrome, Type 8	Short neck, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, ...	OMIM:613885
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Failure to thrive, Bicuspid aortic valve, Short stature, Tremor, Growth del...	OMIM:617744
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Narrow chest, Sparse hair, Bifid uvula, Joint...	OMIM:607812
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, P...	ORPHA:534
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Joint laxity, Prominent metopic ridge, Arachnodactyly, Hyperconvex nail, P...	OMIM:619721
Gapo Syndrome	Micrognathia, High, narrow palate, Eruption failure, Sparse hair, Alopecia, Facial palsy, Sparse ...	OMIM:230740
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Abnormal toenail morphology, Spina bifida occulta, Abn...	ORPHA:464
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Co...	ORPHA:1883
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Clinodactyly, Hernia, Joint laxity,...	ORPHA:94065
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Increased s...	OMIM:252600
Fibrochondrogenesis	Omphalocele, Hypoplastic fingernail, Hypoplastic scapulae, Short stature, Camptodactyly of finger...	ORPHA:2021
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca...	ORPHA:558
Alexander Disease Type I	Cachexia, Failure to thrive, Ataxia, Scoliosis	ORPHA:363717
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Deep-set nails, Overlapping toe, Short stature, Micrognathia, Narrow mouth, Wid...	OMIM:201170
Dyskeratosis Congenita	Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Ava...	ORPHA:1775
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Alopecia, Tented upper lip vermilion, Rocker bottom foot, Proxi...	OMIM:619762
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Abnormality of the nail, Genu va...	OMIM:250420
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop...	OMIM:607317
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Synophrys, Pectus carinatum, High palate, Short philtrum,...	ORPHA:3063
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Hyperlordosis, Micrognathia, Abnormality of hair text...	ORPHA:73223
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Joint swelling, Abnormal tibial ...	ORPHA:668
Cerebrooculofacioskeletal Syndrome 4	Micrognathia, Knee flexion contracture, Short philtrum, Wrist flexion contracture, Dislocated rad...	OMIM:610758
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp...	ORPHA:2916
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Eosin...	OMIM:616651
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, ...	OMIM:264180
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Hypoproteinemia	OMIM:207731
Nephrotic Syndrome, Type 1	Small for gestational age, Hyperlipidemia, Growth delay, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Postnatal ...	OMIM:619184
Arts Syndrome	Growth delay, Progressive muscle weakness, Ataxia	OMIM:301835
Congenital Myopathy 24	Waddling gait, Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopath...	OMIM:617336
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Acrofacial Dysostosis, Palagonia Type	Short neck, Micrognathia, High, narrow palate, Low anterior hairline, Abnormal form of the verteb...	ORPHA:1787
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Short neck, Micrognathia, Hypoplasia of the ma...	ORPHA:96334
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Hyperlordosis, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertensi...	ORPHA:1192
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Short neck, Metaphyseal widening,...	OMIM:239850
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
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H...	OMIM:226650
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis...	OMIM:616455
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge...	OMIM:269920
Jaberi-Elahi Syndrome	Brittle hair, Dysmetria, Pectus carinatum, Choreoathetosis, Gait ataxia, Sparse hair, Sparse eyeb...	OMIM:617988
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hypomagnesemia, Clubbing, Clubbing of fingers, Hypokalemia, Nail dystrophy, N...	OMIM:175500
Riboflavin Transporter Deficiency	Bulbar palsy, Ataxia, Facial palsy, Cachexia, Limb muscle weakness, Muscle weakness	ORPHA:97229
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Achondrogenesis	Inguinal hernia, Severe short stature, Micromelia, Short neck, Abnormal enchondral ossification, ...	ORPHA:932
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature, Muscular dystrophy	OMIM:204730
Trisomy 20P	Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:261318
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Short stature, Pectus excavatum,...	ORPHA:3219
Osteogenesis Imperfecta, Type Vi	Joint laxity, Increased susceptibility to fractures	OMIM:613982
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor...	ORPHA:667
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hand ...	ORPHA:254886
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Proximal muscle weakness, Kyphosis, Gowers sign, Flexi...	OMIM:618484
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Inguinal hernia, Prominent metopic ridge, Dental crowding, Hyperlordos...	ORPHA:2789
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Short thorax, Reduced bone mineral densit...	ORPHA:2983
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Flexion contracture, Hepatosplenomegaly, Clumsiness, Ey...	ORPHA:2590
Ataxia-Telangiectasia	Skeletal muscle atrophy, Hypopigmentation of hair, Failure to thrive, Ataxia, Diabetes mellitus, ...	ORPHA:100
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Short neck, Micrognathia, Hypoplasia of the ...	OMIM:261540
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Gowers...	OMIM:620369
Craniolenticulosutural Dysplasia	Brittle hair, Hypoplasia of the maxilla, Coarse hair, High palate, Narrow chest, Sparse hair, Mic...	ORPHA:50814
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr...	OMIM:602271
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, P...	OMIM:610505
Tenorio Syndrome	Osteopenia, Joint laxity, Mandibular prognathia, Hypoglycemia, Delayed cranial suture closure, Wi...	OMIM:616260
Idiopathic Juvenile Osteoporosis	Bone pain, Recurrent fractures, Osteoporosis	ORPHA:85193
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu...	OMIM:253220
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Micrognathia, Synophrys, High palate, Short philtrum, Clinodactyly of the 5th finger, Short statu...	OMIM:618443
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w...	OMIM:260660
Gomez-Lopez-Hernandez Syndrome	Alopecia, Short stature, Ataxia, Craniosynostosis, Wide anterior fontanel, Thin vermilion border,...	OMIM:601853
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Laron Syndrome	Delayed eruption of teeth, Severe short stature, Hypoglycemia, Micrognathia, Short toe, Osteoarth...	ORPHA:633
Leprechaunism	Skeletal muscle atrophy, Nephrocalcinosis, Increased circulating renin level, Hepatomegaly, Enlar...	ORPHA:508
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa...	OMIM:619752
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec...	OMIM:614921
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Decreased circulating plasmalogen concentration, Inguinal hernia, Rhiz...	OMIM:222765
Xylt1-Cdg	Joint laxity, Joint dislocation, Short stature, Coxa valga, Accelerated skeletal maturation, Syno...	ORPHA:370930
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L...	OMIM:603554
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short stature, Micrognathia, Short neck, Kyphosis, Obesity, Type II diabetes mel...	ORPHA:3191
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Short stature, Inguinal hernia, Cranio...	ORPHA:166035
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility	OMIM:615220
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo...	OMIM:300400
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Hypoplastic toenails, Asplenia, Dextrotransposition of ...	OMIM:306955
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Hyperhidrosis, Opisthot...	OMIM:617013
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, High palate, Sparse hair, Microdontia, Microre...	OMIM:278250
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Inguinal hernia, Small for gestational age, Short stature, Fifth finger distal phalanx clinodacty...	ORPHA:3369
Severe Congenital Nemaline Myopathy	Facial palsy, Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morpholog...	ORPHA:171430
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Gm1-Gangliosidosis, Type Ii	Ataxia, Coxa valga, Joint stiffness, Protruding tongue, Gingival overgrowth, Hypoplastic vertebra...	OMIM:230600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:258450
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Hypopigmentation of hair, Albinism	ORPHA:2786
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom...	ORPHA:93476
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ...	OMIM:314390
Tonne-Kalscheuer Syndrome	Broad-based gait, Hypospadias, Short stature, Congenital diaphragmatic hernia, Concave nail, Trem...	OMIM:300978
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Situs inversus totalis, Asplenia, Femoral bowing, Aortic valve ...	OMIM:615415
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Elevated circulating crea...	OMIM:620300
Sialidosis Type 2	Inguinal hernia, Short stature, Ataxia, Kyphosis, Short thorax, Osteoporosis, Flexion contracture...	ORPHA:87876
Chédiak-Higashi Syndrome	Hyponatremia, Hypopigmentation of hair, Hypertriglyceridemia, Ataxia, Increased circulating ferri...	ORPHA:167
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulating lut...	ORPHA:453533
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Recurrent fractures	OMIM:620368
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Arthrogrypo...	OMIM:607598
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Abnormality of the dentition, Kyphosis, Synophrys, Small ...	ORPHA:238750
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypertonia, Hypoplasia of the thy...	OMIM:264090
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp...	ORPHA:85445
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Idiopathic Achalasia	Weight loss	ORPHA:930
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Hypoglycemia, Highly arched eyebrow, Accelerated skel...	OMIM:617190
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:2576
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spurs, Recurrent frac...	OMIM:618188
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ...	ORPHA:439822
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Arachnodactyly, Joint hypermobility, Pectus excavatum, Narrow mout...	ORPHA:2463
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Synophrys, Low anterior hairline, Irregular vertebral endplates, Posterior scalloping...	OMIM:610442
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Joint laxity, Sandal gap, Short stature, Kyphosis, Cryptorchidism, Thick l...	OMIM:300354
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Short neck, Tremor, Flexion contracture, Choreoathetosis, Male hypogonadism, Wrist flexion contra...	OMIM:300055
Osteoporosis-Pseudoglioma Syndrome	Barrel-shaped chest, Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Me...	OMIM:259770
X-Linked Creatine Transporter Deficiency	Short stature, Ataxia, Cachexia, Abnormal circulating creatine concentration, Joint hyperflexibil...	ORPHA:52503
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Clubbing, Growth delay, Clubbing of fingers, Hypoalbuminemia, Hypoproteinemia	OMIM:226300
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Flexion contracture, Scoliosis, Spinal rigidity	OMIM:618323
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit...	OMIM:618000
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Scoliosis, Beaking of ver...	OMIM:108300
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hirsutism, Gingiva...	ORPHA:313855
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Pectus carinatum, H...	OMIM:300676
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap...	OMIM:614592
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short ...	ORPHA:1797
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, T...	ORPHA:583
Insulin-Like Growth Factor I, Resistance To	Micrognathia, Synophrys, High palate, Long philtrum, Short stature, Highly arched eyebrow, Delaye...	OMIM:270450
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo...	ORPHA:2311
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne...	ORPHA:1300
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Coarse hair, Narrow ...	ORPHA:198
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:619343
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Camptodactyly of finger, Hypohidrosis, Muscular dystrophy, Aplasia/Hypop...	ORPHA:2926
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Glucose intolerance, High palate, Short philtrum, ...	OMIM:619127
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
H Syndrome	Microcytic anemia, Hernia, Micropenis, Alopecia, Short stature, Abnormality of the kidney, Hepato...	ORPHA:168569
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Progressive external ophthalmoplegia, Impaired glucose tolerance, Facial palsy, Elevated circulat...	OMIM:610131
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Ataxia, Kyphosis, Increased skull ossificat...	OMIM:618476
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture	OMIM:607278
Malonyl-Coa Decarboxylase Deficiency	Short stature, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmalon...	OMIM:248360
Spinocerebellar Ataxia 48	Gait ataxia, Ataxia, Cachexia, Dysmetria	OMIM:618093
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Decreased testicular size, Short stature, Short neck, Abnormal rib morphology,...	ORPHA:2234
Huntington Disease	Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weight loss, C...	ORPHA:399
Keratoderma Hereditarium Mutilans	Autoamputation of digits, Alopecia, Osteolysis, Cleft palate, Abnormal toenail morphology, Abnorm...	ORPHA:494
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Reduced intraabd...	ORPHA:363400
Maternal Uniparental Disomy Of Chromosome 1	Short stature, Ataxia, Delayed closure of the anterior fontanelle, Abnormal limb bone morphology,...	ORPHA:251009
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Short stature, Thick hair, Elevated circulating creatine kinase concentrat...	OMIM:617675
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Short neck, Micrognathia, 2-3 toe cutaneous syndactyly, High palate, ...	OMIM:609625
Marden-Walker Syndrome	Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, Congenital contractur...	OMIM:248700
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Delayed skeletal maturation, Abnormal rib morphology, Joint hyp...	ORPHA:2475
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Inguinal hernia, Sacral dimple, Large for gestational age, Kyphosis, Umbilical hernia, Nephroblas...	OMIM:618272
Noonan Syndrome 13	Short neck, Micrognathia, Enlarged thorax, High palate, Widely spaced teeth, Microdontia, General...	OMIM:619087
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the...	OMIM:600920
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Delayed puberty	ORPHA:2598
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab...	ORPHA:163966
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Lateral Meningocele Syndrome	Dental crowding, Short neck, Micrognathia, Coarse hair, High palate, Vertebral fusion, Short stat...	OMIM:130720
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Abnormality of the nail, Finger syndactyly, Alopecia, Ab...	ORPHA:2092
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Broad clavicles, Malar flatt...	OMIM:269500
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Sacral dimple, Prominent metopic ridge, Overlapping toe, Small for gest...	OMIM:613792
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental...	ORPHA:251004
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Hypoalb...	OMIM:603553
Satoyoshi Syndrome	Short metacarpal, Alopecia, Short stature, Short metatarsal, Osteolytic defects of the phalanges ...	OMIM:600705
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc...	ORPHA:392
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra...	OMIM:612731
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism	OMIM:300861
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Premature loss of teeth, Absence of subcutaneous fat, Corneal sca...	OMIM:610965
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Short neck, Micrognathia, Synophrys, Downturned corners of mou...	OMIM:619297
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadis...	ORPHA:353298
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Abnormality of the tongue, Wrist pain, Pathologic fracture, Abnorma...	ORPHA:314652
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Ulnar dev...	OMIM:618291
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures	OMIM:166740
Grant Syndrome	Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ...	OMIM:616300
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Micrognathia, Delayed skeletal maturation, Short distal ph...	OMIM:180860
Cockayne Syndrome	Dry hair, Congenital contracture, Progressive gait ataxia, Abnormal dental morphology, Ataxia, Cr...	ORPHA:191
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Wide ant...	OMIM:614886
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Carious teeth, Preaxial hand polyda...	ORPHA:2316
Ellis-Van Creveld Syndrome	Pectus carinatum, Narrow chest, Hypoplastic iliac wing, Neonatal short-limb short stature, Abnorm...	OMIM:225500
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2834
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone...	ORPHA:79474
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ...	ORPHA:1969
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Dental crowding, Hypertriglyceri...	OMIM:615381
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Cardiomegaly, Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Spa...	OMIM:613576
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Trisomy 13	Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Kyphosis, Postaxial ...	ORPHA:3378
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal hair pattern, Highly arched eyebrow, Proximal placement of th...	ORPHA:261250
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin...	OMIM:613752
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o...	OMIM:608022
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor...	ORPHA:85447
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Hypoplasia of the ma...	OMIM:201000
Hutchinson-Gilford Progeria Syndrome	Alopecia, Micrognathia, Absence of subcutaneous fat, Osteolysis, Growth delay, Malar flattening, ...	OMIM:176670
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Grange Syndrome	Increased susceptibility to fractures	ORPHA:79094
Cranioectodermal Dysplasia 4	Smooth philtrum, Short stature, Sagittal craniosynostosis, Pectus excavatum, Onychogryposis, Hip ...	OMIM:614378
2Q31.1 Microdeletion Syndrome	Short neck, Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterio...	ORPHA:251014
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare...	OMIM:615924
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Primary Intestinal Lymphangiectasia	Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia	ORPHA:90362
Celiac Disease, Susceptibility To, 1	Alopecia, Stomatitis, Short stature, Ataxia, Postnatal growth retardation, Osteoporosis, Rickets,...	OMIM:212750
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle...	ORPHA:2990
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short stature, Short neck, Short middle phalanx of the...	OMIM:617926
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness	OMIM:614885
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Accelerated skeletal maturation, Calcaneovalgus d...	OMIM:277590
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Micrognathia, Short phalanx of finger, Joint laxity, Short stature, Wide anterior fon...	OMIM:225410
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Gait...	ORPHA:2181
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly,...	OMIM:613091
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy, Hypogonadism	OMIM:254000
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o...	OMIM:200600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Sh...	OMIM:602471
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Co...	ORPHA:251071
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Short stature...	OMIM:309000
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Short stat...	ORPHA:1597
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Clinodac...	ORPHA:363611
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
2P15P16.1 Microdeletion Syndrome	Enlarged thorax, High palate, Prominent metopic ridge, Facial palsy, Tapered finger, Sparse eyebr...	ORPHA:261349
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Diabetes mellitus, Short stature, Abnormality of the dentit...	ORPHA:739
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho...	ORPHA:56304
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Camptodactyly of finger, Alopecia totalis, Nail dysplasia	OMIM:212360
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:615181
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Postnatal growth retardation, Acromicria, Small hand, Obesity, Abnormal heart...	ORPHA:254525
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Weight loss	ORPHA:2494
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, ...	OMIM:601680
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Postnatal ...	OMIM:619135
Seckel Syndrome 5	11 pairs of ribs, Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidism, Delayed ...	OMIM:613823
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ...	OMIM:617061
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra...	ORPHA:96
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Harrod Syndrome	Arachnodactyly, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Join...	ORPHA:2115
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,...	OMIM:300534
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri...	OMIM:617405
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ...	ORPHA:2388
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Ataxia, Cardiac conduction abnormality, Chorea, Low plas...	ORPHA:255210
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Abnormal dental enamel morphol...	ORPHA:96263
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cryptorchidism,...	OMIM:605822
Immunoneurologic Disorder, X-Linked	Progressive proximal muscle weakness, Small for gestational age	OMIM:300076
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Ataxia, Tachycardia, Chorea, Dilated cardiomyopathy, Spastic ...	OMIM:618321
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Ketonuria, Ataxia, Cardiac arrest, Spastic hemiparesis, Leukocytosis, Dilated cardi...	ORPHA:20
Juvenile Huntington Disease	Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progressive cerebellar atax...	ORPHA:248111
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Hypotriglyceridem...	ORPHA:404454
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Elevated circulating creatine kinase concentration, Short stature, Cachexia, Generalized ...	ORPHA:1933
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Hyperlordosis, Short neck...	ORPHA:710
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Elevated circul...	OMIM:276700
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Micromelia, Joint stiffness, ...	ORPHA:2249
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Patent foramen ova...	ORPHA:576
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism...	ORPHA:85279
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Clinodactyly of the 5th finger, Hypot...	ORPHA:1606
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Pter...	ORPHA:1865
Viss Syndrome	Epidural hemorrhage, Right ventricular dilatation, Atrial septal defect, Patent foramen ovale, Hy...	OMIM:619472
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Abnormality of subcutaneous fat t...	ORPHA:1901
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Large f...	OMIM:603116
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sho...	OMIM:256550
Dengue Fever	Hypoproteinemia, Gingival bleeding	ORPHA:99828
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Aplasia/Hypoplasia ...	ORPHA:79404
Ataxia-Telangiectasia-Like Disorder 2	Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia, Ataxia, Progressive...	OMIM:615919
Proteus Syndrome	Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger...	ORPHA:744
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Femo...	ORPHA:2588
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Large fontan...	ORPHA:1525
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Narrow chest, Widely spaced teeth, Hypocalcemia, Sparse hair, M...	OMIM:218330
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Upper limb muscle ...	ORPHA:90117
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Ataxia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility...	ORPHA:2479
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,...	ORPHA:168555
Silver-Russell Syndrome 2	Short stature, Delayed closure of the anterior fontanelle, Micrognathia, Delayed skeletal maturat...	OMIM:618905
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le...	ORPHA:251282
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Large posterior fontanelle, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly...	OMIM:617925
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, High palate, Wr...	OMIM:121050
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Hyperlordosis, Respiratory insufficiency due ...	ORPHA:365
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph...	ORPHA:2976
Masa Syndrome	Short stature, Hyperlordosis, Kyphosis, Talipes equinovarus, Shuffling gait, Adducted thumb	OMIM:303350
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Distal Deletion 10Q	Micrognathia, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Short metatarsal, High palate, ...	ORPHA:96148
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Panniculitis, Smal...	OMIM:608068
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Diabetes mellitus, Small for gestational age, Micrognathia, Long hallu...	OMIM:620194
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Short stature, Craniosynostosi...	ORPHA:794
Congenital Disorder Of Glycosylation, Type Iib	Thoracic scoliosis, Recurrent fractures, Long eyelashes, High palate, Hand clenching, Overlapping...	OMIM:606056
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tapere...	ORPHA:544488
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Distal muscle weakness, Foot dorsiflexor weakness, Neuropathic arthropathy, Inabil...	ORPHA:36386
Acrootoocular Syndrome	Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Short metacarpal, S...	ORPHA:2980
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Hypercalcemia, Tapered finger, Pectus excavatum, K...	ORPHA:476126
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Large for gestational age, Tibial bowing, Spina bifida occulta, Long hallu...	ORPHA:500095
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Broad hallux, Delayed cranial su...	ORPHA:276432
Momo Syndrome	Delayed eruption of teeth, Short stature, Hyperconvex nail, Short neck, Large for gestational age...	ORPHA:2563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Flexion contracture, Elevated circulating creatine kinase concentration, Scoliosis, Muscular dyst...	OMIM:615249
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Cartilage-Hair Hypoplasia	Fair hair, Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Sho...	OMIM:250250
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect...	ORPHA:2911
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the...	ORPHA:77300
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Diabetes mellitus, Hypogonadotropic ...	ORPHA:465508
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Short stature, Loss of eyelashes, Osteolysis...	OMIM:263700
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ...	ORPHA:276422
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,...	OMIM:269150
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod...	OMIM:261990
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Clino...	OMIM:617602
Doors Syndrome	Short lingual frenulum, Hemivertebrae, Abnormal finger morphology, Low anterior hairline, Downtur...	ORPHA:79500
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Recurrent fractures, Gingivitis, Pectus carinatum, Premature loss of teeth	OMIM:618107
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Short stature, Elevated circulating creatine kinase concen...	OMIM:232400
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Gait distur...	ORPHA:101075
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus ...	OMIM:616362
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Micrognathia, Absent thumb...	ORPHA:1234
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormality of t...	ORPHA:3224
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Ant...	OMIM:164745
Arthrogryposis, Distal, Type 5	Arachnodactyly, Short stature, Limited wrist extension, Pectus excavatum, Kyphosis, Ophthalmopleg...	OMIM:108145
Fg Syndrome Type 1	Dental crowding, Micrognathia, Generalized joint laxity, Abnormal sternum morphology, Fused teeth...	ORPHA:93932
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Tented upper lip vermilion, Overlapping toe, Delayed cranial suture closure, Inability to walk, D...	OMIM:619383
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Gl...	ORPHA:79282
Orofaciodigital Syndrome Type 10	Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Spasticity, Bradyc...	OMIM:614702
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone min...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone min...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone min...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, Hypoplastic toenails, High, narrow palate, Reduced bone min...	ORPHA:881
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Hyperlordosis...	ORPHA:3130
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Atypical Rett Syndrome	Involuntary movements, Tremor, Inability to walk, Kyphosis, Small hand, Limb myoclonus, Gait atax...	ORPHA:3095
Saccharopinuria	Citrullinuria, Short stature, Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Cystinuria, S...	ORPHA:3124
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent...	OMIM:619473
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Short neck, High, narrow palate, Synophrys, Prominent protruding coccyx, Sparse hair,...	OMIM:300966
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Streak ovary, Hy...	ORPHA:2232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Occipital Horn Syndrome	Persistent open anterior fontanelle, Decreased circulating ceruloplasmin concentration, Pectus ca...	OMIM:304150
22Q11.2 Deletion Syndrome	Short neck, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoureteral reflux, ...	ORPHA:567
Multiple Myeloma	Osteopenia, Hypercalcemia, Generalized muscle weakness, Elevated circulating creatinine concentra...	ORPHA:29073
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb...	ORPHA:56305
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Sheldon-Hall Syndrome	Short stature, Tarsal synostosis, Ulnar deviation of the wrist, Short neck, Micrognathia, Joint s...	ORPHA:1147
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Waddl...	OMIM:131300
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormality of the tongue, Weight loss, Increased susceptibility to fractures,...	ORPHA:216866
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Synophry...	ORPHA:254346
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin...	ORPHA:411593
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Chor...	ORPHA:79312
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing...	OMIM:619951
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Long thorax, Short ...	OMIM:616268
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint ...	ORPHA:2655
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Short neck, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High p...	OMIM:266920
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Abnormal sal...	ORPHA:85443
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Short stature, Abnormal dental...	ORPHA:96264
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Accelerated s...	ORPHA:562
Prolidase Deficiency	Arachnodactyly, Abnormal fingernail morphology, Micrognathia, Carious teeth, Low anterior hairlin...	ORPHA:742
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hypoglycemic se...	OMIM:616364
Incontinentia Pigmenti	Ridged nail, Conical tooth, Hemivertebrae, Coarse hair, Oligodontia, Sparse hair, Atrophic, patch...	OMIM:308300
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Amelogenesis Imperfecta	Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ...	ORPHA:88661
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ...	ORPHA:819
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Patellar aplasi...	ORPHA:96061
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe...	ORPHA:3085
Immunodeficiency 27A	Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Mitochondrial Neurogastrointestinal Encephalomyopathy	Distal muscle weakness, Cachexia, External ophthalmoplegia, Ophthalmoparesis, Weight loss, Hypera...	ORPHA:298
Blomstrand Lethal Chondrodysplasia	Micrognathia, Accelerated skeletal maturation, Narrow chest, Neonatal short-limb short stature, D...	ORPHA:50945
Dystonia 28, Childhood-Onset	Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto...	OMIM:617284
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ...	OMIM:607634
Classic Homocystinuria	Sparse scalp hair, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffness, Pectus ...	ORPHA:394
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Broad metatars...	OMIM:277600
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ...	OMIM:615633
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Broad-based gait, Peroneal muscle weakness, Facial palsy, Progressive distal mu...	OMIM:181405
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Abnormal metacarpophalangeal joint morphology, Abnormality of ...	ORPHA:85408
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture...	OMIM:230000
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi...	ORPHA:1310
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Missing ribs, Abno...	ORPHA:2759
Coenzyme Q10 Deficiency, Primary, 1	Loss of ambulation, Progressive muscle weakness, Ataxia, Elevated circulating creatine kinase con...	OMIM:607426
Baralle-Macken Syndrome	Tapered finger, Kyphosis, High, narrow palate, Inability to walk, Obesity, Hirsutism	OMIM:619255
Triosephosphate Isomerase Deficiency	Respiratory insufficiency due to muscle weakness, Kyphosis, Progressive muscle weakness, Unsteady...	OMIM:615512
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Short stature, Congenital diaphragmatic hernia, Short neck,...	ORPHA:1834
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Tremor, Postnatal growth retardation, Synophrys, Prominent protruding coccyx, Obesity, Spastic di...	ORPHA:480907
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse...	ORPHA:90156
Trisomy 17P	Micrognathia, Short neck, Flexion contracture, Orofacial cleft, High palate, Clinodactyly of the ...	ORPHA:261290
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de...	ORPHA:263508
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic necrosis, Growth delay, Hyp...	OMIM:231530
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus, Difficulty walking, Failure to thrive, Amelogenesis imperfecta	OMIM:612782
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Short stature, Absent pubertal growth spurt, Ataxia, Kyphosis, Unsteady gait, Hip ...	ORPHA:464282
Sandhoff Disease	Kyphosis, Failure to thrive, Ataxia, Muscle weakness	ORPHA:796
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fing...	OMIM:608149
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Delayed skeleta...	OMIM:612447
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Congenit...	ORPHA:1647
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Micrognathia, Abnormality of the dentition, Spinal canal stenosis, High ...	OMIM:618282
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism	ORPHA:2221
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Chronic Hiccup	Weight loss	ORPHA:396
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Flexion contractur...	OMIM:263650
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, Abnormal circulating creatine kinas...	ORPHA:899
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi...	ORPHA:225147
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis	ORPHA:816
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Synophrys, Ovoid thoracolumbar vertebrae, Coarse...	OMIM:252930
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ...	OMIM:208920
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Sh...	ORPHA:96169
C Syndrome	Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Sh...	OMIM:211750
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Carious teeth, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Pr...	OMIM:616353
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Arachnodactyly, Congenital diaphragmatic hernia, Short stature, Sparse eyebrow,...	ORPHA:370079
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hernia, Microdontia, Hypoplasia of the fem...	OMIM:607014
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Int...	OMIM:615010
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Short stature, Thick hair, Tremor, Increased variability in muscle fiber diamete...	ORPHA:502423
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Micrognathia, Sh...	OMIM:227270
Cockayne Syndrome Type 2	Mandibular prognathia, Ataxia, Scarring, Delayed eruption of primary teeth, Kyphosis, Cryptorchid...	ORPHA:90322
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Femoral hernia,...	ORPHA:3342
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Del...	ORPHA:93325
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Short neck, Micrognathia, Calcaneovalgus defo...	OMIM:615065
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Hyperlordosis, Micrognathia, Joint sti...	ORPHA:1323
Fucosidosis	Hepatomegaly, Decreased muscle mass, Generalized hyperkeratosis, Lipoatrophy, Cardiomegaly, Kypho...	ORPHA:349
Rhabdoid Tumor	Renal neoplasm, Cerebral palsy, Hypercalcemia, Weight loss, Anemia, Lymphadenopathy, Hematuria, H...	ORPHA:69077
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont...	ORPHA:263297
Meier-Gorlin Syndrome 3	Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum...	OMIM:613803
Lopes-Maciel-Rodan Syndrome	Tremor, Kyphosis, Unsteady gait, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, B...	OMIM:617435
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Prominent metopic ridge, Small for gestational age, Rocker bottom foo...	OMIM:618804
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Craniosynostosis, Micrognathia, Mic...	ORPHA:93329
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th fing...	OMIM:117650
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Rib fusion, Obesity, Cleft palat...	ORPHA:261197
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Pectus carinatum, Joint hyperflexibility, Gait disturbance, Hypertrichosis	OMIM:614898
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis	ORPHA:86893
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morphology, Abnormal hair pattern, Lim...	ORPHA:2796
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Abnormal eyelash morphology, Abnormal hair morphology, Flexi...	ORPHA:2671
Liver Disease, Severe Congenital	Joint laxity, Hyperalaninemia, Dry hair, Hyponatremia, Inguinal hernia, Elevated circulating alph...	OMIM:619991
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Poor head control, Inguinal hernia, Kyphoscoliosis, Short neck, Coxa va...	ORPHA:254519
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Failure to thrive, Alopecia, Brittle hair	ORPHA:50812
Huntington Disease-Like 2	Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor	OMIM:606438
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Clubbing of toes, Weight loss, Palmoplantar keratoderma	ORPHA:2198
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Isaacs Syndrome	Weight loss	ORPHA:84142
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature,...	ORPHA:812
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Recurrent joint dislocation, Short stature, Recurrent fractures, Reduced bone mi...	OMIM:619115
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona...	OMIM:620076
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Azoospermia,...	OMIM:601076
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Low anterior hairline, Low posterior hairl...	OMIM:609128
Oculocerebrocutaneous Syndrome	Alopecia, Congenital hip dislocation, Cryptorchidism, Abnormal thorax morphology, Cleft palate	OMIM:164180
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hy...	ORPHA:3145
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Hypoglycemia, Short stature, Kyphoscoliosis, Hip dislocation, High...	OMIM:618005
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Intrauterine gr...	ORPHA:228390
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Neck flexor weakness, Elevated circulatin...	OMIM:618138
Gm1-Gangliosidosis, Type Iii	Short stature, Ataxia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of...	OMIM:230650
3C Syndrome	Finger syndactyly, Hypoplastic fingernail, Inguinal hernia, Short stature, Short neck, Missing ri...	ORPHA:7
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G...	ORPHA:3210
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o...	ORPHA:85167
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Arachnodactyly, Dental crowding, Kyphoscoliosis, Pectus excavatum,...	OMIM:236200
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont...	ORPHA:314588
Parkinsonism-Dystonia 1, Infantile-Onset	Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign...	OMIM:613135
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Renal agenesis, Short stature, Bilateral cry...	ORPHA:2326
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J...	ORPHA:353281
Charcot-Marie-Tooth Disease And Deafness	Thenar muscle atrophy, Tremor, Thenar muscle weakness, Split hand, Hammertoe, Steppage gait, Gait...	OMIM:118300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Hypoglycemia, Short stature, Onychauxis, Insuli...	OMIM:262190
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Lipodystrophy, Micrognathia, Postnatal growth retardation, Congenital...	ORPHA:435628
Shprintzen-Goldberg Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of the ve...	ORPHA:2462
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short me...	OMIM:608328
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Postaxial polydactyly, Missing ribs, Hypoplastic ischia,...	OMIM:617866
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Short stature, Carious teeth, Hyperlipidemia, Ost...	ORPHA:79259
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Micrognathia, Cryptorchidism, Delayed skeletal maturat...	ORPHA:52
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Bresek Syndrome	Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Growth delay, ...	ORPHA:85284
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Intrauterine ...	ORPHA:1506
Chromosome 18Q Deletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, T...	OMIM:601808
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Delayed skeletal maturation...	ORPHA:77259
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Clinodactyly of the 5th finger, Prominent metopic r...	ORPHA:1272
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ...	OMIM:615873
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Syndactyly, Short stature, Cryptorchidism, A...	OMIM:176270
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Maffucci Syndrome	Short stature, Recurrent fractures, Bone pain, Osteolysis, Growth delay, Scoliosis	ORPHA:163634
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph...	ORPHA:568
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101078
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Cardiomyopat...	ORPHA:119
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Hi...	ORPHA:3472
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Joint laxity, Inguinal hernia, Omphalocele, Overlapping toe, Exaggerated cupid's bow, P...	ORPHA:254528
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Metatarsus adductus, Elbow dislocation, Submu...	ORPHA:2804
Becker Nevus Syndrome	Lipoatrophy, Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphol...	ORPHA:64755
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Dorsocervical fat pad, Proximal muscle weakness, Hyperlipidemia, Osteoporosis, Increase...	ORPHA:189427
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cubitus valgus, Cryptorchidism, Large fontanelles, Low posterior hairline,...	ORPHA:1778
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Diabetes mellitus...	ORPHA:3220
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Cardio...	ORPHA:324525
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Facial palsy, Recurrent fractures, Growth delay, Osteopetrosis, S...	OMIM:611490
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia...	ORPHA:2347
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Diastema, Open bite, D...	OMIM:619698
Glass Syndrome	Dental crowding, Anterior tibial bowing, Micrognathia, Conical tooth, Oligodontia, High palate, S...	OMIM:612313
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Abnormal thorax morphol...	ORPHA:793
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati...	OMIM:312870
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Short stature, Ataxia, Progressive proximal muscle weakness, Obes...	ORPHA:98907
Adams-Oliver Syndrome 2	Alopecia, Micrognathia, Low anterior hairline, Absent distal phalanges, Short middle phalanx of f...	OMIM:614219
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexua...	ORPHA:90795
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Fasting hypoglyc...	ORPHA:96182
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingiv...	OMIM:169400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Ophthalmoplegia, Unsteady gait, Limb ataxia, Ankle clonus, Gait disturb...	ORPHA:412057
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Rocker bottom foot, Craniosynostosis, Coxa valga, Short stature, Crypt...	OMIM:301056
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst, Gait disturbance	OMIM:221770
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Total ophthalmoplegia, Progressive external ophthalmoplegia, Neck flexor weakness, Facial palsy, ...	OMIM:157640
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas...	OMIM:200980
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla...	OMIM:252940
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
X-Linked Agammaglobulinemia	Alopecia, Sinusitis, Osteomyelitis, Short stature, Weight loss, Arthritis, Glossoptosis, Hypocalc...	ORPHA:47
Aspartylglucosaminuria	Mandibular prognathia, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Carious tee...	ORPHA:93
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Broad-based gait, Lower limb spasticity, Short stature, Parkinsonism, Kyphoscolio...	ORPHA:3077
Congenital Ichthyosiform Erythroderma	Alopecia, Failure to thrive, Abnormality of the nail	ORPHA:79394
Intellectual Developmental Disorder, Autosomal Dominant 65	Prominent metopic ridge, Tented upper lip vermilion, Ataxia, Micrognathia, Synophrys, Low posteri...	OMIM:619320
Kbg Syndrome	Tented upper lip vermilion, Short neck, Synophrys, Low anterior hairline, Widely-spaced maxillary...	OMIM:148050
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Smal...	ORPHA:488434
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Failure to thrive, Flexion contracture	OMIM:618237
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Micrognathia, Postaxial hand polydactyly, Osteoporosis, ...	OMIM:607330
Kallmann Syndrome	Decreased testicular size, Ataxia, Recurrent fractures, Cryptorchidism, Delayed skeletal maturati...	ORPHA:478
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,...	ORPHA:245
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Brachydactyly, Downturned corners of mouth, Short philtrum, Worm...	OMIM:601224
Omodysplasia 1	Short neck, Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizome...	OMIM:258315
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Short stature, Postnatal growth ret...	OMIM:614800
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Pectus excavatum, Kyph...	ORPHA:77301
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot...	OMIM:188400
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, O...	ORPHA:1826
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Clumsiness, Cardiomyopathy, Facial diplegia, Steppage gait, Abno...	ORPHA:521411
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Ophthalmoplegia, Ophthalmoparesis, Hyperconvex finge...	ORPHA:257
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Short nail, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 toe s...	OMIM:614099
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Skeletal muscle atrophy, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Talipes eq...	OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hyperflexibility, Pectus carinatum	ORPHA:319199
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Low anterior hairline, Finger joi...	ORPHA:363705
Wilson Disease	Back pain, Bone pain, Increased body weight, Weight loss, Arthritis, Proximal muscle weakness in ...	ORPHA:905
Poems Syndrome	Diabetes mellitus, Lipodystrophy, Pericardial effusion, Metaphyseal sclerosis, Hypothyroidism, Ab...	ORPHA:2905
Sanjad-Sakati Syndrome	Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormalit...	ORPHA:2323
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Short stature, Recurrent fractures, Elevated circulating creatine kinase conce...	ORPHA:2785
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, High palate, Microdontia, Long hallu...	OMIM:259775
Hurler-Scheie Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Micrognathia, Joint stiffness, Kyphosis,...	OMIM:607015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ataxia, Large for gestational age, Pectus excavatum, Abnormal...	OMIM:615398
Insulin-Like Growth Factor I Deficiency	Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Delayed skeletal maturatio...	OMIM:608747
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Hyperkalemia, E...	OMIM:620366
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Proximal amyotrophy, U...	ORPHA:209335
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma...	ORPHA:1652
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp...	OMIM:612843
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Sandal gap, Adrenal hypop...	OMIM:613177
Pseudoaminopterin Syndrome	Limited elbow movement, Micrognathia, Orofacial cleft, High palate, Short philtrum, Patchy reduct...	ORPHA:221120
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, 4-5 finger syndactyly, 2-3 finger s...	ORPHA:158687
Hemochromatosis, Type 1	Arthropathy, Alopecia, Diabetes mellitus, Increased circulating ferritin concentration, Osteoporo...	OMIM:235200
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the ...	OMIM:608978
Naxos Disease	Curly hair, Sparse scalp hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Hemivertebrae, Downturned corners of mouth, Widely spaced te...	OMIM:156200
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Short p...	ORPHA:464738
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Dislocated radial he...	OMIM:605039
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Short distal phalanx of the thumb, Odontogenic keratocys...	OMIM:109400
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Sparse hair, Clinodactyly of the 5th f...	OMIM:613026
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp...	ORPHA:2309
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura...	ORPHA:93317
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Broad-based gait, Tented upper lip vermilion, Ataxia, Abnormality of pr...	ORPHA:438216
Hurler Syndrome	Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j...	ORPHA:93473
Craniofrontonasal Syndrome	Ridged nail, Congenital diaphragmatic hernia, Short neck, Sprengel anomaly, Clinodactyly of the 5...	OMIM:304110
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Intrauterine growth ...	OMIM:619573
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, High, narrow pal...	OMIM:619880
Silver-Russell Syndrome 3	Syndactyly, Small for gestational age, Elbow contracture, Unilateral cryptorchidism, Short statur...	OMIM:616489
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Pectus carinatum, Hyperconvex fin...	OMIM:303600
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade...	ORPHA:100024
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Orofaciodigital Syndrome Iii	Hyperconvex nail, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, To...	OMIM:258850
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Ataxia, Avascular necrosis of the capital femoral epiphysis, Cryptorchid...	OMIM:613990
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Hyperhidrosis, Dysdiadochokinesi...	OMIM:618049
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilio...	OMIM:620114
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Abnormality of the dentition, Delayed skeletal maturation, Os...	ORPHA:2235
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Kyphosis, C...	ORPHA:404440
Trisomy 9P	Sacral dimple, Hypoplastic fingernail, Dental crowding, Short neck, Hypoplastic toenails, Kyphosi...	ORPHA:236
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Bilateral cryptorchidism, Tr...	OMIM:300998
Emanuel Syndrome	Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Inguinal hernia, Delayed e...	OMIM:609029
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Short stature, Thick hair, Lipodystrophy, Delayed cl...	ORPHA:357074
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter...	OMIM:616470
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Abnormal odontoid tissue morphology, Decerebrate rigidity, Intraute...	ORPHA:79255
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin...	ORPHA:2298
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Hemiatrophy, Difficulty walking, Scoli...	ORPHA:306669
Baraitser-Winter Cerebrofrontofacial Syndrome	Failure to thrive, Prominent metopic ridge, Duplication of thumb phalanx, Highly arched eyebrow, ...	ORPHA:2995
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Portal hypertension, Asplenia, Situs inve...	OMIM:208540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Spinal rigidity, Skeletal muscle hypertrophy,...	OMIM:613150
Sweet Syndrome	Acute myeloid leukemia, Myositis, Neutrophilia, Elevated circulating C-reactive protein concentra...	ORPHA:3243
Trisomy 8Q	Camptodactyly of finger, Short neck, Micrognathia, Joint stiffness, Cryptorchidism, Bone cyst, No...	ORPHA:1752
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Hyperammonemia, Pulm...	OMIM:619051
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired ...	ORPHA:79102
Idiopathic Bronchiectasis	Clubbing, Cachexia	ORPHA:60033
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Abnormal rib morpholog...	ORPHA:3301
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Glucose intolerance, Short midd...	OMIM:309620
Nijmegen Breakage Syndrome	Abnormal hair quantity, Short stature, Cachexia, Short neck, Abnormal hair morphology, Deep philt...	ORPHA:647
Martsolf Syndrome 1	Thoracic scoliosis, Clonus, Osteopathia striata, Low anterior hairline, Finger joint hypermobilit...	OMIM:212720
Oculopharyngodistal Myopathy 4	Postural tremor, Elevated circulating creatine kinase concentration, Autophagic vacuoles, Tremor,...	OMIM:619790
Meier-Gorlin Syndrome 4	Short stature, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, C...	OMIM:613804
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Oste...	OMIM:619718
Radio-Renal Syndrome	Severe short stature, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplasia of th...	ORPHA:3015
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Os odontoideum, Joint laxity, Postnatal growth retardation, Hip dislocation, Talipes ...	OMIM:616603
Autosomal Recessive Primary Microcephaly	Growth delay, Thin upper lip vermilion, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Tibial bowing...	ORPHA:798
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Macrodactyly, Telangiectasia of the skin, 2-4 toe syndactyly, Abnormality of the lym...	ORPHA:276280
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Short stature, Rhabdomyosarcoma, Acute lympho...	ORPHA:1052
Friedreich Ataxia	Hand muscle atrophy, Diabetes mellitus, Inability to walk, Chorea, Babinski sign, Limb ataxia, Dy...	ORPHA:95
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Hyperh...	ORPHA:860
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Clubbing, Weight loss, Pulmonary v...	ORPHA:79128
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Short neck, Micrognathia, Low anterior hairline, Choreoathetosis, High palate, Short philtrum, Cl...	OMIM:620224
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	OMIM:611126
Trisomy 1Q	Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit...	ORPHA:261344
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mit...	OMIM:609638
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology,...	ORPHA:324410
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Proximal placement of thumb, Short neck, Micrognathia, Limited elbow movement, Synophrys, Low ant...	OMIM:610759
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Prominent fingertip pads, Vertebral fusion, Prominent metopic r...	OMIM:610443
Thanatophoric Dysplasia Type 2	Short stature, Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexi...	ORPHA:93274
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Hypotaurinemia, Mitral valve prolapse	OMIM:145350
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra...	OMIM:261640
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyram...	ORPHA:397946
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Reduced bone...	OMIM:259050
Refsum Disease, Classic	Short fourth metatarsal, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phy...	OMIM:266500
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Cutaneous ...	OMIM:211380
Kleefstra Syndrome 2	Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Kabuki Syndrome 2	Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Short stature, Highly arched e...	OMIM:300867
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Micrognathia, Synophrys, Low anterior hairline, S...	OMIM:619841
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, ...	OMIM:609008
Plaa-Associated Neurodevelopmental Disorder	Smooth philtrum, Hyperextensibility of the finger joints, Bulbar palsy, Tented upper lip vermilio...	ORPHA:521426
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia	ORPHA:79242
Arterial Calcification, Generalized, Of Infancy, 1	Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa...	OMIM:208000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Iron deficiency anemia, Urinary bladder sphincter dysfun...	ORPHA:79408
Grange Syndrome	Decreased body weight, Recurrent fractures, Increased susceptibility to fractures	OMIM:602531
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Pectus exca...	ORPHA:1812
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, L...	ORPHA:116
Pelizaeus-Merzbacher Disease	Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Short stature, Tremor, Inability ...	OMIM:312080
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hypoplastic toenails, Pectus carinatum, Knee flexion contracture, Downturned corners of mouth, Cl...	ORPHA:488642
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Ataxia, Thrombocytopenia, Paraparesis, Hype...	ORPHA:27
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Inability to walk, Unsteady gait...	OMIM:618493
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Hyperhidrosis, Gr...	ORPHA:70594
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Ataxia, Diabetes insipidus, Hydroure...	OMIM:222300
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Diabetes mellitus, Short stature, Ectopic kidney, Tremor, Abnormality of...	ORPHA:94063
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Aplastic ...	ORPHA:1512
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ...	ORPHA:273
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ...	OMIM:134780
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Sparse hair...	OMIM:164200
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Episodic hyperhidrosis, Vocal cord paralysis, Adrenal pheochromocytoma, Positive regitine...	ORPHA:276621
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Sandal gap, Short stature, Malar prominence, Wide mouth, Joint hyperflexib...	ORPHA:2715
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Cardiomyopath...	OMIM:617710
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Downt...	ORPHA:531151
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ...	OMIM:613805
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Abnormal p...	ORPHA:183
Whipple Disease	Hyponatremia, Ataxia, Cachexia, Insulin resistance, Arthritis, Muscle weakness	ORPHA:3452
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia o...	ORPHA:436252
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Short stature, Tremor, Cryptorchidism, Trun...	OMIM:300957
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage...	ORPHA:3260
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Long clavicles, Pectus excavatum, Limitation of joint mobility, Osteopor...	OMIM:259100
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Hemivertebrae, D...	OMIM:122600
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:216400
Familial Papillary Or Follicular Thyroid Carcinoma	Bone pain, Recurrent fractures	ORPHA:319487
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist,...	ORPHA:95699
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Thickened ribs, Joint stiffness, Synophrys, Ovoid thoracolumbar vertebrae, Coars...	OMIM:252900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Gait ataxia, Myoclonus, Increased variability i...	ORPHA:70595
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Equinus calcaneus, Con...	ORPHA:746
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, High palate, Narrow mouth, A...	OMIM:616866
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance	OMIM:307500
D-Bifunctional Protein Deficiency	Osteopenia, Failure to thrive, Delayed cranial suture closure, Micrognathia, Pectus excavatum, De...	OMIM:261515
Alpha-Mannosidosis, Infantile Form	Osteopenia, Mandibular prognathia, Thickened ribs, Short neck, Pectus carinatum, Cortical thicken...	ORPHA:309282
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
Tarp Syndrome	Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchidism, Scoliosis, Widely patent fontanell...	ORPHA:2886
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Smooth philtrum, Bulbar palsy, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydact...	OMIM:617527
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large ...	ORPHA:457359
Marshall Syndrome	Sparse eyelashes, Short stature, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Osteoar...	ORPHA:560
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kina...	OMIM:615356
Radio-Tartaglia Syndrome	Thick eyebrow, Ventricular septal defect, Ataxia, Highly arched eyebrow, Long eyebrows, Tapered f...	OMIM:619312
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Oral mucosal blisters, Narrow mouth, Flexion contracture, Corneal scarring, Growth dela...	OMIM:226600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxi...	OMIM:615157
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Short neck, Abnormal rib morphology, Low posterior hairline, Azoospermia, Vertebra...	ORPHA:2578
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Sparse hair, Prominent fi...	OMIM:305450
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth...	OMIM:608654
Wolf-Hirschhorn Syndrome	Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Hyperconvex fingernails, Do...	OMIM:194190
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Ataxia, Eosinophilia, Abnormal pericardium morpho...	ORPHA:284
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Female hypogonadism, Decreased circulating parathyroid hormone leve...	OMIM:240300
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Joint stiffness, Synophrys, Genu valgum, Aplastic/hypopl...	ORPHA:1295
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Flexion contracture, ...	OMIM:620001
Cystic Echinococcosis	Hepatomegaly, Eosinophilia, Abnormality of the testis size, Renal cyst, Abnormal heart morphology...	ORPHA:400
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Cryptorchidi...	OMIM:619185
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Small for gestation...	ORPHA:1830
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Cranioectodermal Dysplasia 2	Short neck, Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Sparse hai...	OMIM:613610
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Ovoid th...	OMIM:252920
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop...	ORPHA:319171
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Hypospadias, Micromelia...	OMIM:612651
Cerebrofaciothoracic Dysplasia	Short stature, Abnormal hair pattern, Short neck, Cleft upper lip, Synophrys, Rib fusion, Hemiver...	ORPHA:1394
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Failure to thrive in infancy, Elevated circulating C-reactive protein ...	OMIM:612852
Flat Face-Microstomia-Ear Anomaly Syndrome	Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Cr...	ORPHA:1968
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles...	OMIM:302800
Trigonocephaly 1	Omphalocele, Craniosynostosis, High, narrow palate, Synophrys, Lumbar hemivertebrae, Metopic syno...	OMIM:190440
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormality of the vertebral spinous processes, Ataxia, Abnormal tibia morphology, Ab...	ORPHA:909
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Osteoporosis, Scoliosis	OMIM:618234
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Gracile Bone Dysplasia	Failure to thrive, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, ...	OMIM:602361
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Pectus excavatum, Kyphosis, Synophrys, Bone cyst, Flexion contrac...	ORPHA:3042
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tapered finger, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Dista...	OMIM:616505
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature	ORPHA:195
Noonan Syndrome 14	Curly hair, Scapular winging, Short stature, Short neck, Pectus excavatum, Kyphosis, Sparse eyebr...	OMIM:619745
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss, Bone marrow hypo...	ORPHA:391
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Spin...	ORPHA:1724
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Skeletal muscle atrophy, Tapered finger, Tremor, Long fingers, Inability to walk, Flexion contrac...	OMIM:218000
Au-Kline Syndrome	Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Clinodactyl...	OMIM:616580
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Carious teeth, Osteoporosis, Nail pits, Premature graying of hair,...	OMIM:127550
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Craniosynostosis, Kyphosis, Hypertrichosis, Contracture ...	OMIM:618050
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Low anterior hairline, Scoliosis, Right unilamb...	OMIM:616602
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, High palate, Sparse hair, Dystrophic fingernails, Short stature, Abnorm...	ORPHA:1340
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Kyphosis, Skeletal muscle hypertrophy, Gait disturbance, Scoliosis	ORPHA:99014
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Microg...	ORPHA:2062
Glycogen Storage Disease Ia	Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, Hyperlipidemia, Nephrolithiasis,...	OMIM:232200
Vertebral Hypersegmentation And Orofacial Anomalies	Scapular winging, Inguinal hernia, Supernumerary nipple, Micrognathia, Pectus excavatum, Widow's ...	OMIM:619122
Catel-Manzke Syndrome	Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Clinoda...	OMIM:616145
Juvenile Polyposis Of Infancy	Short stature, Cachexia, High, narrow palate, Clubbing of fingers, Midclavicular hypoplasia, Hypo...	ORPHA:79076
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Tapered finger	OMIM:618512
Ulbright-Hodes Syndrome	Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel...	ORPHA:3404
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Myocardial infarction, Over...	ORPHA:457240
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Arthritis, Alopecia, Elevated circulating C-reactive protein concentration, Recurrent sinusitis	OMIM:615559
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Thin upper lip vermilion, Inguinal hernia, Short stature, Metatarsus adduct...	OMIM:611962
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Atypical scarring of skin, Nail dystrophy, Alopecia totalis	ORPHA:1366
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:619120
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Gastrointestinal hemorrhage,...	ORPHA:440437
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Absent axillary hai...	ORPHA:2269
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Cleft palate, Low posterior hairline, Scoliosis, Cervical C2...	OMIM:118100
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal...	ORPHA:769
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Short stature, Tapered finger, Cryptorchidism, Growth...	ORPHA:1867
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Leydig cell neoplasia, Hyponatremia, Im...	ORPHA:361
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Highly arched eyebrow, Cr...	OMIM:265050
Momo Syndrome	Delayed eruption of teeth, Hyperconvex nail, Short neck, Delayed skeletal maturation, Thick lower...	OMIM:157980
Robinow Syndrome, Autosomal Dominant 3	Short neck, Micrognathia, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short...	OMIM:616894
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc...	OMIM:143880
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, I...	OMIM:182410
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Short neck, Low anterior hairline, Renal hypoplasia, C...	OMIM:617666
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Sh...	OMIM:311200
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co...	OMIM:180700
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ...	ORPHA:1855
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Flexion contracture, Spastic/hyperactive bladder, Generali...	ORPHA:137898
Infantile Krabbe Disease	Poor head control, Cachexia, Ankle clonus, Shoulder girdle muscle weakness, Neck muscle weakness,...	ORPHA:206436
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Growth delay, Transient hyperphenylalaninemia, Dystonia, Oculomo...	OMIM:612716
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Premature loss of primary teeth, Abnor...	ORPHA:2907
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, ...	OMIM:136140
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Narrow chest, Short p...	OMIM:619148
Mesomelic Dysplasia, Savarirayan Type	Short stature, Delayed closure of the anterior fontanelle, Abnormal thorax morphology, Hip disloc...	OMIM:605274
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Small for gestational age, Hypoglycemia, Micrognathia, Postnatal gro...	ORPHA:397590
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Periodic paralysis, Rhabdomyolysis, Weight loss, Hypokalemia, Palpi...	OMIM:188580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Ataxia, Small for gestational age, Hypospadias, Tremor, Cryptorchidism, Hyperamm...	OMIM:614052
Ohdo Syndrome, Sbbys Variant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Long thumb, Hypothyroidism, Long hallux	OMIM:603736
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy...	OMIM:619574
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, High, narrow palate, High palate, Loss of ambulation, Ulnar deviation of the hand o...	OMIM:214100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle...	OMIM:617895
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-o...	OMIM:113500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Craniosynostosis, Oral mucosal blisters, Growth delay, Atrophic scars, Smooth...	ORPHA:79396
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Joint la...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Joint la...	ORPHA:363958
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Monosomy 9P	Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Synophrys...	ORPHA:261112
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Ataxia, Renal agenesis, Highly arched eyebrow, Renal hypoplasi...	ORPHA:2754
Congenital Disorder Of Glycosylation, Type Ia	Tremor, Flexion contracture, Dysmetria, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Hypothy...	OMIM:212065
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Severe short stature, Thoracolu...	OMIM:618853
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc...	OMIM:301040
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti...	ORPHA:171876
Caffey Disease	Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi...	OMIM:114000
Short-Rib Thoracic Dysplasia 12	Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, H...	OMIM:269860
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Abnormal ...	ORPHA:818
Shwachman-Diamond Syndrome 1	Small for gestational age, Anterior rib cupping, Ovoid vertebral bodies, Short stature, Metaphyse...	OMIM:260400
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar...	OMIM:216340
Sifrim-Hitz-Weiss Syndrome	Short stature, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervical vertebrae, Sh...	OMIM:617159
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Spastic gait, Ankle clonus, Scoliosis, Upper limb dysmetria, Limb muscle weakness, Lowe...	OMIM:614409
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Absent eyelashes, Abnormal hair morpholog...	ORPHA:861
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Fanconi Renotubular Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Bone pain, Hypophosphatemi...	OMIM:613388
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Pericarditis, Alopecia, Gastrointestinal hemorrhage, Elevated ci...	ORPHA:93672
Mogs-Cdg	Alopecia, Thoracic scoliosis, Fair hair, Hydrocele testis, Long eyelashes, High palate, Overlappi...	ORPHA:79330
Cystinosis, Nephropathic	Skeletal muscle atrophy, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecul...	OMIM:219800
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis, Congenital foot contractures	ORPHA:3454
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pituitary null cel...	ORPHA:97289
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration...	ORPHA:37042
Giant Cell Arteritis	Alopecia, Pericarditis, Ataxia, Diabetes insipidus, Renal insufficiency, Sudden cardiac death, Ep...	ORPHA:397
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Abn...	OMIM:218600
Brown-Vialetto-Van Laere Syndrome 1	Bulbar palsy, Tongue atrophy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmop...	OMIM:211530
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Hypertonia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Pericard...	OMIM:615846
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Increased urinary gly...	OMIM:307030
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Hypergonadotropic hypogonadism, Urinary incontinence, Tremor, Abnormal pyramidal sign, Li...	OMIM:617145
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Cryptorchidism, Thin lower lip ...	OMIM:619194
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Delayed cranial suture closure, Craniosynostosis, Tapered finger, Micrognathia,...	OMIM:620005
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy	ORPHA:324416
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Neph...	OMIM:232220
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Short neck, Micrognathia, Micromelia, Synophrys, High, narrow palate...	OMIM:122470
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Trichiasis, Micrognathia, Pectus excavatum, Kyphosis, Sparse eyebrow, High palat...	OMIM:609944
Den Hoed-De Boer-Voisin Syndrome	Tremor, Amelogenesis imperfecta, Ataxia, Overweight, Obesity, 2-3 toe syndactyly, Upper limb spas...	OMIM:619229
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Episodic hyperhidrosis, Vocal cord paralysis, Adrenal pheochromocytoma, Positive regitine...	ORPHA:29072
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Alo...	ORPHA:293978
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Calf muscle hypertrophy, Fasciculatio...	OMIM:313200
Sweeney-Cox Syndrome	Micrognathia, Bilateral cryptorchidism, Low anterior hairline, High palate, Narrow chest, Short p...	OMIM:617746
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Tented upper lip vermilion, Kyphosis, 2-3 toe syndactyly, Cleft palate, Pectus c...	OMIM:616449
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Severe short stature, Short stature, Short neck, Kyph...	OMIM:309900
Fanconi Anemia	Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Atrial septal defect, Clinodactyly of...	ORPHA:84
20Q11.2 Microduplication Syndrome	Sacral dimple, Tented upper lip vermilion, Inguinal hernia, Prominent metopic ridge, Pectus excav...	ORPHA:363659
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatine kinase concentration, Proximal muscle weakness, Progressive proxima...	OMIM:620138
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail	ORPHA:2584
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Conjugated hyperbilirubinemia, Earl...	OMIM:208500
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta...	OMIM:608681
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cry...	OMIM:210900
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ...	OMIM:617140
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Hand muscle weakness, Fatty...	ORPHA:98908
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p...	ORPHA:57777
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures	ORPHA:97290
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Clinodactyly of the 5th finger, Atrial septal d...	OMIM:607872
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Allergic Bronchopulmonary Aspergillosis	Abnormal fingernail morphology, Weight loss	ORPHA:1164
9P13 Microdeletion Syndrome	Microretrognathia, Short stature, Hyperconvex nail, Highly arched eyebrow, Joint stiffness, Hypop...	ORPHA:324313
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Failure to thrive, Severe short stature, Hypospadias, Abnormal dental ...	ORPHA:2556
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus art...	OMIM:601005
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short stature, Pectus excavatum, Hypoplastic toenails, Hypoplasia of the zygomatic bone, Nail dys...	ORPHA:2835
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Choreoathetosis, Cardiomy...	ORPHA:445038
Pleural Mesothelioma	Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, A...	ORPHA:373
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the...	ORPHA:33355
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:160
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypoglycemia, Tapered finger, Hyperlordosis, Cleft lip, Synophrys, Limited elbow extension, Hip d...	OMIM:301066
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Abnormal hair morphology, Kyphosis, Abnorm...	ORPHA:324737
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Hypoplastic coccygeal vertebrae, High palate, Narrow chest, Triphalange...	OMIM:105650
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Ataxia, Short stature, Tremor, Splenomegaly, Paronychia, Decreas...	OMIM:201100
Gabriele-De Vries Syndrome	Waddling gait, Hallux valgus, Sandal gap, Facial hypotonia, Sparse eyebrow, Cryptorchidism, Long ...	OMIM:617557
Cystathioninuria	Tremor, Cystathioninuria, Nephrolithiasis, Cystathioninemia, Talipes equinovarus	ORPHA:212
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati...	OMIM:201475
Perry Syndrome	Parkinsonism, Tremor, Weight loss, Abnormality of extrapyramidal motor function, Hypotension	ORPHA:178509
Beta-Thalassemia Intermedia	Osteopenia, Diabetes mellitus, Osteoporosis, Increased susceptibility to fractures, Reduced bone ...	ORPHA:231222
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Kelo...	ORPHA:96129
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Gait ...	OMIM:135900
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Growth delay, Osteop...	OMIM:612301
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Vertebral ...	ORPHA:2970
Dermatitis Herpetiformis	Bone pain, Recurrent fractures	ORPHA:1656
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog...	ORPHA:91347
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidi...	OMIM:130650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio...	OMIM:616538
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100080
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Abnormality of the dentition, Flexion contracture, De...	ORPHA:90289
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Hypouricemia, Bicarbonaturia, Bone pain, Weight loss, Increased susce...	ORPHA:3337
Ayme-Gripp Syndrome	Mandibular prognathia, Sparse scalp hair, Smooth philtrum, Thin upper lip vermilion, Short statur...	OMIM:601088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Orofacial cleft,...	ORPHA:79107
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Eyelid apraxia, Elevated circulating creatine kinase concentratio...	OMIM:612953
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Inguinal hernia, Down-sloping shoulders, Proportionate short statur...	OMIM:227330
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Scarring	OMIM:247100
Lysinuric Protein Intolerance	Short stature, Recurrent fractures, Hypolysinemia, Increased circulating ferritin concentration, ...	OMIM:222700
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Short stature, Broad femoral neck, Increased in...	OMIM:619727
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Cryptorchidi...	ORPHA:2075
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Growth dela...	ORPHA:261144
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Increased circulating ACTH level, Obesity, Abdominal obesity, Biconc...	OMIM:219090
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:352665
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,...	OMIM:617821
Omenn Syndrome	Alopecia, Thyroiditis, Failure to thrive, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Clinodactyly of the 5th finger, Atrial septal defect...	OMIM:243800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Patent ductus arter...	OMIM:620327
Follicular Lymphoma	Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Progressive proximal muscle weakness, Elevated circulating creat...	ORPHA:368
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs...	ORPHA:2273
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hyp...	ORPHA:309854
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Truncal obesity, Increas...	OMIM:219080
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradykinesia, Myoclonus, T...	OMIM:137440
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Inguinal hernia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, ...	OMIM:248500
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Urinary incontinence...	OMIM:268800
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic...	ORPHA:887
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Failure to thrive, Fragile nails	OMIM:242150
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F...	ORPHA:37
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn...	OMIM:154400
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Prominent metopic ridge, Highly arch...	ORPHA:75857
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Corticobasal Syndrome	Limb dystonia, Speech apraxia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movement...	ORPHA:454887
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Abnormality of the uppe...	ORPHA:99885
Keutel Syndrome	Alopecia, Short stature, Recurrent sinusitis, Short distal phalanx of finger	ORPHA:85202
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Missing r...	OMIM:613686
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ...	ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C...	OMIM:617713
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, C...	ORPHA:47612
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Lower limb spasticity, Ataxia, Scarring, Foot joint contractur...	ORPHA:90321
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Gaucher Disease Type 3	Increased bone mineral density, Ataxia, Ophthalmoplegia, Delayed skeletal maturation, Bone pain, ...	ORPHA:77261
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:97287
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Ventricular...	OMIM:300967
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Focal Dermal Hypoplasia	Ridged nail, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopath...	OMIM:305600
Erdheim-Chester Disease	Renal insufficiency, Ataxia, Abnormal pericardium morphology, Hypogonadotropic hypogonadism, Dysu...	ORPHA:35687
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Cryptorchidism, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy	OMIM:618373
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Muscular dystrophy, Adducted thumb	OMIM:614643
Aggressive Systemic Mastocytosis	Bone pain, Osteoporosis, Osteolysis, Weight loss, Pathologic fracture	ORPHA:98850
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co...	OMIM:613280
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Selective tooth agenesis, Hypoplasia of...	OMIM:106260
Familial Dysautonomia	Hyponatremia, Ataxia, Recurrent fractures, Osteolysis, Growth delay, Gait disturbance, Scoliosis,...	ORPHA:1764
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spastic t...	ORPHA:352649
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology	ORPHA:525
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Pectus excavatum, White hair, Reduced bone mineral density, Fine hair, Long fibu...	ORPHA:935
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Distal Renal Tubular Acidosis	Short stature, Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Bone pain...	ORPHA:18
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Rib ...	ORPHA:50
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis...	ORPHA:49041
Joubert Syndrome	Ataxia, Highly arched eyebrow, Situs inversus totalis, Tremor, Abnormal form of the vertebral bod...	ORPHA:475
Micro Syndrome	Short stature, Joint stiffness, Micrognathia, Kyphosis, Cryptorchidism, High palate, Short philtr...	ORPHA:2510
Trisomy 10P	Thumb contracture, Wide cranial sutures, Small for gestational age, Micrognathia, Short toe, Hemi...	ORPHA:171929
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Wide mouth, Long philtrum, Fa...	OMIM:608776
Tay-Sachs Disease	Skeletal muscle atrophy, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigi...	ORPHA:845
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100082
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Asymmetry of the mouth...	ORPHA:401973
3Mc Syndrome 1	Dental crowding, Synophrys, Clinodactyly of the 5th finger, Spina bifida occulta, Caudal appendag...	OMIM:257920
Sézary Syndrome	Hepatomegaly, Alopecia, Skeletal muscle atrophy, Tremor, Splenomegaly, Lymphadenopathy, Palmoplan...	ORPHA:3162
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Short neck, Micrognathia, Micromelia, Cryptorchidism...	ORPHA:99776
Central Diabetes Insipidus	Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hennekam-Beemer Syndrome	Short stature, Camptodactyly of finger, Micrognathia, Thick lower lip vermilion, High palate, Sco...	ORPHA:2135
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Bon...	ORPHA:416
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf...	OMIM:168605
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Short neck, Synophrys, Clubbing, Hypochromic microcytic...	ORPHA:96123
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Alopecia, Failure to thrive, Hypothyroidism	OMIM:304790
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorch...	ORPHA:293843
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance	OMIM:600142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Elevated circulating creatine kinase...	OMIM:613154
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Multiple joint contractures, Nail dystrophy	ORPHA:100976
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Hypouricemia, Increa...	OMIM:613179
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Sparse eyebrow, Bilateral cr...	OMIM:613451
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Broad-based gait, Cachexia, Pectus excavatum, Ophthalmoplegia, Limb ataxia, Growth...	ORPHA:2072
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, High palate, Joint laxity, Short stature, Facial ...	OMIM:619325
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraple...	OMIM:105210
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis, Tremor, Rigidity,...	ORPHA:99750
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia	OMIM:610706
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Kyphosis, Cryptorc...	ORPHA:398069
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Hemiplegia/hemi...	ORPHA:144
Joubert Syndrome With Ocular Defect	Ataxia, Dextrocardia, Highly arched eyebrow, Tremor, Hand polydactyly, Gait disturbance, Foot pol...	ORPHA:220493
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Torticollis, Abnormal thoracic spine morphology, Elevated ca...	ORPHA:370348
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Limb ataxia, Gait a...	OMIM:619259
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Long clavicles, Arachnodactyly, Overlapping toe, Inguinal hernia, Micrognathia...	ORPHA:83617
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Abnormal dental mo...	ORPHA:978
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed skeletal ma...	ORPHA:90674
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,...	ORPHA:188
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Inguinal hernia, Incoordination, Ventricular septal defect, Ataxi...	OMIM:614947
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Aspergillosis	Sinusitis, Osteomyelitis, Abnormal rib morphology, Abnormal long bone morphology, Abnormality of ...	ORPHA:1163
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Leigh Syndrome	Hyperalaninemia, Alopecia, Multiple joint contractures, Distal muscle weakness, Hypoglycemia, Ata...	ORPHA:506
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Ankylosis, Sparse ...	OMIM:275210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Tremor, Synophrys, Hypertrophy of the urinary bladder, Atrial septal defect, Patent f...	ORPHA:280633
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Finger clin...	ORPHA:1596
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Split hand, Absen...	ORPHA:974
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ataxia, Flexion contracture, Abnormal pyramidal sign, Cardiomyopathy, Myopathy, Ethylmalonic acid...	OMIM:201470
Brucellosis	Elevated circulating C-reactive protein concentration, Chorea, Hyperhidrosis, Leukopenia, Hepatom...	ORPHA:1304
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis, Cryptorchidism, High palate, Short philtrum, Decreased tes...	OMIM:615433
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Synophrys, Deep philtrum, Abnormal form of the verte...	ORPHA:2162
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Pancreatic fibrosis, Micromelia, Short neck, Postaxial hand polydactyl...	OMIM:200995
Hyperparathyroidism, Neonatal Severe	Calcinosis, Recurrent fractures, Hypercalcemia, Narrow chest, Hypophosphatemia, Failure to thrive...	OMIM:239200
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Short stature, Ulnar deviation of the wrist, Microgna...	ORPHA:97297
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ...	OMIM:184400
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Inguinal hernia, Small for gestational age, Hypoglycemia, Short stature...	OMIM:613658
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Tremor, Congenital malformation of the lef...	ORPHA:3455
Pallister-Hall Syndrome	Hemivertebrae, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly, Short stature,...	OMIM:146510
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Short toe, Growth delay, Everted lower lip vermili...	OMIM:242100
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Reduced sub...	OMIM:137940
1Q44 Microdeletion Syndrome	Prominent metopic ridge, Exaggerated cupid's bow, Short stature, Micrognathia, Synophrys, Growth ...	ORPHA:238769
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Sparse hair, Decreased skull ossification,...	ORPHA:1662
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bila...	OMIM:619557
Mgat2-Cdg	Osteopenia, Dental crowding, Pectus excavatum, Kyphosis, Long eyelashes, Hypoplastic nipples, Sco...	ORPHA:79329
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Impulsivity, Dysphagia	ORPHA:280195
Curry-Jones Syndrome	Wormian bones, Duplication of thumb phalanx, Lip pit, Unicoronal synostosis, Preaxial hand polyda...	OMIM:601707
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Sparse hair, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Broa...	OMIM:620186
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ...	ORPHA:64
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Pediatric-Onset Graves Disease	Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis wi...	ORPHA:525731
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Wide anterior fontanel, Disprop...	OMIM:616482
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Wolman Disease	Growth delay, Cachexia	ORPHA:75233
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Failure to thrive, Short stature, Highly arched eyebrow, Short neck, Pectus excavat...	OMIM:613563
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Kyphosis, Low anterior hairline, Obesity, Hyperuricemia, Narrow mouth	ORPHA:261222
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Scoliosis	OMIM:610743
Kikuchi-Fujimoto Disease	Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive prot...	ORPHA:50918
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:618838
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u...	OMIM:304050
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Spastic Paraplegia 9B, Autosomal Recessive	Skeletal muscle atrophy, Short stature, Urinary incontinence, Tremor, Babinski sign, Spastic para...	OMIM:616586
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss, Hyperh...	ORPHA:99868
Cowden Syndrome 5	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele t...	OMIM:615108
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss, Neoplasm of the thyroid gland, Adducted...	ORPHA:388
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A...	ORPHA:54251
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Flexion contracture, Thin ribs, Narrow mouth, Mild short stature, Decreased body w...	OMIM:614833
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Short stature, Recu...	ORPHA:355
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protrusio ...	OMIM:225400
Juvenile Polyposis Syndrome	Growth delay, Multiple lipomas, Clubbing of fingers, Rectocele, Narrow mouth, Failure to thrive, ...	ORPHA:2929
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Toluene Embryopathy	Short stature, Micrognathia, Tapered finger, Cryptorchidism, Thin vermilion border, Hypoplasia of...	ORPHA:1920
Olmsted Syndrome 1	Subungual hyperkeratosis, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Alope...	OMIM:614594
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Hypodontia, Sparse hair, Ena...	OMIM:607626
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Nephrolithiasis, Weight loss	OMIM:617321
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Trichotillomania	Alopecia	OMIM:613229
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady...	ORPHA:411602
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Renal insufficienc...	ORPHA:713
Myasthenic Syndrome, Congenital, 20, Presynaptic	Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalmoparesis, Fatigable weakn...	OMIM:617143
Branchiooculofacial Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Premature graying of hair, Sparse hair, Cl...	OMIM:113620
Olmsted Syndrome 2	Sparse hair, Woolly hair, Flexion contracture of digit, Alopecia universalis	OMIM:619208
Chanarin-Dorfman Syndrome	Alopecia, Ataxia, Everted lower lip vermilion, Muscle weakness	OMIM:275630
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Blepharospasm, S...	ORPHA:240094
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin-resistant...	ORPHA:79086
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Larg...	OMIM:614080
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula...	OMIM:606002
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto...	ORPHA:93958
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Short stature, Ataxia, Carious teeth, Crypto...	OMIM:305000
Gaucher Disease, Type I	Bone pain, Pathologic fracture, Vertebral compression fracture, Avascular necrosis, Erlenmeyer fl...	OMIM:230800
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Bilateral cry...	OMIM:150230
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperur...	ORPHA:134
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Cachexia, Weight loss	ORPHA:83469
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Cerebrocostomandibular Syndrome	Short stature, Tracheomalacia, Micrognathia, Kyphosis, Posterior rib gap, Cleft palate, Bell-shap...	ORPHA:1393
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Osteomyelitis, Nail bed telangiectasi...	ORPHA:90291
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio...	OMIM:614298
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100075
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia	OMIM:616576
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Weight loss, Lymphadenopathy, Abnormal skeletal muscle morphology, Anaplast...	ORPHA:142
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Cleft palate, Aplasia/Hypoplasia of the nails,...	OMIM:619123
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Woodhouse-Sakati Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad...	OMIM:241080
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of...	ORPHA:1329
Gaisböck Syndrome	Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Gout, Hyperproteinemia, Increased c...	ORPHA:90041
Cowden Syndrome 6	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele t...	OMIM:615109
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Bilateral cryptorchidism, Thin ribs, High palate, Retrognathia, Joint ...	OMIM:300219
Immunodeficiency 49	Natal tooth, Micrognathia, Short philtrum, Wormian bones, Umbilical hernia, Hirsutism	OMIM:617237
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Prominent metopic ridge, Craniosynostosis, Cryptorchidism, Cleft palate, Furrowed ton...	ORPHA:453499
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Renal tubular dys...	OMIM:616539
Chromosome 14Q11-Q22 Deletion Syndrome	Poor head control, Inguinal hernia, Unilateral cryptorchidism, Prominent metopic ridge, Proportio...	OMIM:613457
Charge Syndrome	Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Clinodactyly of th...	ORPHA:138
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia,...	ORPHA:51
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short ne...	OMIM:601803
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat...	OMIM:620306
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidit...	OMIM:618877
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Pituitary dwarfism, Hypoglycemia, Short neck, Overweight, Delayed pro...	ORPHA:226307
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Progressive external ophthalmoplegia, Elevated circulating deoxyuridine concentration, Distal mus...	OMIM:603041
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis	OMIM:300918
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Rhizomelia, Tremor, Congestive heart failure, Flexion contracture, Opisthotonus...	OMIM:616271
Amoebiasis Due To Entamoeba Histolytica	Abnormal pericardium morphology, Congestive heart failure, Leukocytosis, Weight loss, Hypoalbumin...	ORPHA:67
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Hypogonadotropic hypogonadism, Short stature, Tremor, Hip dislocation, Abnormal pyramidal...	OMIM:614381
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Postaxia...	OMIM:263520
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Elevated circ...	OMIM:162300
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Large for gestational age, External ophthalmoplegia, Res...	ORPHA:169189
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Fatty replacement of skeletal muscle, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Neuroblastoma, Susceptibility To, 1	Ataxia, Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of uri...	OMIM:256700
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Joint laxity, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, Lar...	OMIM:617011
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Lymphadenopathy	ORPHA:411703
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Gait ataxia, Kyphosis, Inability to walk, Pectus carinatum	ORPHA:500180
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finge...	ORPHA:217085
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Short stature, Split hand, Vertebral segmentation defect, Foot polydactyly...	ORPHA:3004
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Abnormal posturing, Anemia, Decreased cervical spine mob...	ORPHA:71272
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Craniosynostosis, Fibular aplasia	OMIM:218550
Alternating Hemiplegia Of Childhood	Ataxia, Facial hypotonia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi...	ORPHA:2131
X-Linked Mandibulofacial Dysostosis	Short stature, Micrognathia, Pectus excavatum, Cryptorchidism, Hypoplasia of the zygomatic bone, ...	ORPHA:1131
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Thyroiditis, Patchy alopecia, Cellulitis, Type I diabetes mellitus,...	OMIM:606367
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Kyp...	OMIM:300960
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-aci...	ORPHA:263455
Neurofibromatosis Type 1	Abnormal hair quantity, Short stature, Recurrent fractures, Ataxia, Joint stiffness, Kyphosis, Cr...	ORPHA:636
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Short stature,...	OMIM:615503
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosis, Cryptorchidism, Increased femoral...	OMIM:619005
Adrenoleukodystrophy	Alopecia, Bulbar palsy, Limb ataxia, Truncal ataxia, Elevated circulating long chain fatty acid c...	OMIM:300100
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Low anterior hairline, Intrauterine growth retardation	OMIM:619909
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t...	ORPHA:420794
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin...	OMIM:608670
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand p...	OMIM:617088
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Weight loss, Lymphad...	ORPHA:139402
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Aplasia/Hypoplasia of the tongu...	ORPHA:989
Primary Myelofibrosis	Cachexia	ORPHA:824
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Microretrognathia, Joint laxity, Arachn...	OMIM:601776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U...	ORPHA:466768
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures, Short stature, Glycosuria	OMIM:268315
Systemic Mastocytosis With Associated Hematologic Neoplasm	Bone pain, Weight loss, Osteoporosis, Increased susceptibility to fractures	ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly...	OMIM:102700
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Cryptorchidism, Narrow palate, Cleft palate, Tooth agenesis, Umbilical hernia, ...	ORPHA:1555
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Cellulitis, Muscu...	ORPHA:3165
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Widely spaced teeth, Short stature, Cleft soft palate, Ataxia, Tapered finger, Cryptorchidism, Su...	ORPHA:268261
Igg4-Related Aortitis	Low back pain, Elevated circulating C-reactive protein concentration, Hypereosinophilia, Weight l...	ORPHA:449400
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Overlapping toe, Delayed cranial suture closure, Highly arched eyebrow, Tapered ...	OMIM:618653
Scrub Typhus	Renal insufficiency, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Hyperhidrosis, Hypotension	ORPHA:83317
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He...	ORPHA:90060
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis, Decreased response to growth hormone stimulation test, Central a...	OMIM:615577
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce...	ORPHA:100085
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Large for gestational age, P...	OMIM:229850
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Hepatomegaly, Alopecia, Abnormal EKG, Abnormal cen...	ORPHA:3385
Hyperlysinemia	Failure to thrive, Neck hypertonia, Short stature, Poor motor coordination, Spastic tetraparesis,...	ORPHA:2203
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Micrognathia, Postax...	ORPHA:46059
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal...	OMIM:614473
Khan-Khan-Katsanis Syndrome	Sacral dimple, Tented upper lip vermilion, Short stature, Postaxial polydactyly, Micrognathia, Hi...	OMIM:618460
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Synophrys, Low anterior hairline...	OMIM:619512
Noonan Syndrome 1	Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, High palate, Short st...	OMIM:163950
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,...	OMIM:619738
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot,...	ORPHA:500055
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Inguinal hernia, Multicystic kidney dysplasia, Ataxia, Renal insufficiency, Highly ...	ORPHA:1454
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Glomerulopathy, Ata...	ORPHA:117
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Hematochezia,...	ORPHA:79095
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Hypoplastic frontal sinuses, ...	OMIM:208400
Zimmermann-Laband Syndrome 1	Hyperextensibility of the finger joints, Synophrys, Low anterior hairline, Spina bifida occulta, ...	OMIM:135500
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Short stature, Patchy alopecia, Broad distal phalanx of finger, Long ph...	OMIM:617763
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
15Q14 Microdeletion Syndrome	Inguinal hernia, Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philt...	ORPHA:261190
Oculogastrointestinal Muscular Dystrophy	External ophthalmoplegia, Cachexia	ORPHA:1876
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Nephroblastoma, Congenital diap...	OMIM:194080
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis	ORPHA:79327
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Abnormal dental ename...	ORPHA:79430
Alexander Disease	Osteopenia, Diabetes mellitus, Ataxia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, High pa...	ORPHA:58
Solitary Fibrous Tumor	Low back pain, Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Hypoph...	ORPHA:2126
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Kyphosis, Cryptorchi...	OMIM:619244
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Short stature, Ataxia, Abnormality of the dentition, Cryptor...	ORPHA:910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Spasticity, Hyd...	OMIM:615287
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Kyphosis, Gait ataxia, Gait disturbance, Scoliosis, Camptodactyly, Flexion...	ORPHA:88628
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Tre...	ORPHA:94093
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Short neck, Micrognathia, Synophrys, Widely spaced teeth, High palate, Cli...	OMIM:612474
Joubert Syndrome With Renal Defect	Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Hand polydactyly, Gait disturbance, S...	ORPHA:220497
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, T...	ORPHA:781
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cor...	ORPHA:199299
Cowden Syndrome 1	Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele t...	OMIM:158350
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula...	OMIM:300942
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Cardiomyopathy, Generalized amyotrophy...	ORPHA:572798
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Small for gestational age, Neonatal insulin-dep...	ORPHA:556955
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Highly arched eyebrow, Short neck, Abnormal hair pattern, Cryptorchidism...	ORPHA:495818
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Dela...	ORPHA:3464
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ...	OMIM:616084
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo...	ORPHA:2396
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Short neck, Large for gestational age, Flexion contracture, Knee flexion contractur...	OMIM:300868
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Short neck, Micrognathia, Aplasia/hypoplasia involving...	ORPHA:96176
Early Infantile Epileptic Encephalopathy	Dystonia, Ventricular septal defect, Precocious puberty, Tremor, Spasticity, Micropenis, Choreoat...	ORPHA:1934
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Spontaneous, r...	OMIM:214500
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Inguinal hernia, Thickened ribs, Abnormal dental morphology, Camptodactyly of finge...	ORPHA:217093
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Short stature, Elevated circula...	ORPHA:420741
Craniopharyngioma	Proportionate short stature, Postnatal growth retardation, Obesity, Increased susceptibility to f...	ORPHA:54595
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Broad h...	OMIM:614188
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, S...	ORPHA:468631
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Granulomatosis, Abnormality of the hypotha...	ORPHA:900
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Aminoaciduria, Hypoalbumi...	OMIM:277900
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Short palm	ORPHA:3217
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Hepatome...	OMIM:618278
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine...	ORPHA:240071
Chand Syndrome	Curly hair, Short fifth metatarsal, Ataxia, Cleft palate, Agenesis of permanent teeth, Abnormal o...	ORPHA:1401
Parietal Foramina 1	Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, External ophthalmoplegia...	OMIM:613603
Mixed Connective Tissue Disease	Alopecia, Joint stiffness, Osteolysis, Arthritis, Joint swelling, Avascular necrosis	ORPHA:809
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Hyperhidrosis, Promin...	ORPHA:466677
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Sparse eyebrow,...	ORPHA:69085
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Prominent metopic ridge, Short stature, Craniosynostos...	ORPHA:2745
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Membranoproliferative glomerulon...	ORPHA:48435
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnorm...	ORPHA:2519
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of the dentition, Nail dystrophy, Oral leu...	OMIM:620040
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Abnormality of neutrophils, Myocardial...	ORPHA:36426
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:143
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Malar ...	OMIM:600775
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul...	ORPHA:500150
Acromegaly	Mandibular prognathia, Broad jaw, Diabetes mellitus, Abnormal fingernail morphology, Macrodactyly...	ORPHA:963
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Hyperinsulinemia, Dys...	OMIM:620185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Elevated circulating creatine kinase concentration, Cryptorchidism, Congenital contracture, Conge...	OMIM:236670
Liposarcoma	Weight loss	ORPHA:69078
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Pontine Tegmental Cap Dysplasia	Ataxia, Facial palsy, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Failure to t...	OMIM:614688
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Micrognathia, Kyphosis, Dysmetria, Knee flexion contracture, Bilateral talipes equinovaru...	OMIM:619708
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive	ORPHA:169154
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Short stature, Scarring, Abnormality of the dentition, C...	ORPHA:158668
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Diabetes mellitus, Abnormal fingernail morphology, Macrodactyly...	ORPHA:314769
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Spastic tetraplegia, Abnormal heart morphology, Hemiparesis, Po...	ORPHA:268943
Cap Polyposis	Weight loss	ORPHA:160148
Pediatric Systemic Lupus Erythematosus	Arthritis, Alopecia, Oral ulcer, Muscle weakness	ORPHA:93552
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Hypo...	ORPHA:920
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short stature, Macroglossia, Severe postnatal growth retardation, Malar flattening, Failure to th...	OMIM:613038
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Pectus...	OMIM:218040
Isolated Cleft Lip	Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal...	OMIM:157800
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Cryptorc...	OMIM:610829
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Lymphadenopathy, ...	ORPHA:100078
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Bullous Pemphigoid	Weight loss	ORPHA:703
Vater/Vacterl Association	Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachus, Vesicoureteral reflux,...	OMIM:192350
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Inability ...	ORPHA:99956
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Hyperalaninemia, Hypertriglyceridemia, Hyper...	ORPHA:470
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Tremor, Finger joint hypermobility, Hypoth...	ORPHA:506358
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Small for gestational...	ORPHA:464306
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o...	ORPHA:286
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Hernia, Clinodactyly of the 5th...	ORPHA:264450
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod...	OMIM:608594
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97261
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Diabetes mellitus, Tented upper lip vermilion, Cryptorchidism, Obesity, Gingival over...	OMIM:614231
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Reduced bone mineral density, Fatigable weakness, Hyper...	ORPHA:428
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Central ...	ORPHA:514
Microsporidiosis	Sinusitis, Osteomyelitis, Cachexia, Weight loss, Glossitis	ORPHA:2552
Nephroblastoma	Weight loss, Hematuria, Hypertension, Lymphadenopathy, Nephroblastoma	ORPHA:654
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hyp...	OMIM:269200
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia	OMIM:248390
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Small for gestational age, Short stature, Wide anterior fon...	ORPHA:488437
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Central hypothyroidism, Gro...	ORPHA:95427
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk...	OMIM:308205
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Hyperhidrosis, Weight loss, Pheochromocytoma, Eleva...	ORPHA:1332
Bloom Syndrome	Diabetes mellitus, Sparse eyelashes, Small for gestational age, Micrognathia, Adipose tissue loss...	ORPHA:125
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Acantholysis, Ab...	ORPHA:537
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di...	ORPHA:563609
Atrial Standstill 2	Atrial cardiomyopathy, Scarring, Absent P wave, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Fatal Familial Insomnia	Ataxia, Weight loss, Hyperhidrosis, Urinary retention, Myoclonus	OMIM:600072
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Mitral valve calcification, Hepatomegaly, Right ventricular failure, Abn...	ORPHA:60025
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphadenop...	ORPHA:520
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Hyperpho...	OMIM:211900
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Short stature, Cachexia	ORPHA:220295
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, White eyelashes, White eyebrow, Synophrys, Orofacial clef...	OMIM:193500
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Weight loss	ORPHA:33276
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Thin vermilion border, Scoliosis, Delayed puberty, M...	ORPHA:649
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Pectus e...	ORPHA:464311
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Inability to walk, Flexion contracture, Ankle clonus, Scoliosis	OMIM:609541
Autosomal Recessive Ataxia, Beauce Type	Ataxia, Kyphosis, Dysmetria, Ophthalmoparesis, Ankle clonus, Gait disturbance, Scoliosis, Lower l...	ORPHA:88644
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners ...	OMIM:619321
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Glossopharyngeal Neuralgia	Abnormality of the cervical spine, Mandibular pain, Weight loss, Tongue pain, Abnormal palate mor...	ORPHA:221098
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Small for gesta...	OMIM:127000
Immunodeficiency 7	Failure to thrive, Patchy alopecia	OMIM:615387
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ...	ORPHA:254534
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hype...	ORPHA:275761
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Osteoarthritis, Abnormality of the gingiva, Gingivitis, Microdontia, Abnormali...	ORPHA:285
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Severe short stature, Wide anterior fontanel, Hip dislocation, Joi...	ORPHA:90349
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,...	ORPHA:35858
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Panniculitis, Weight loss	ORPHA:33577
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Tick-Borne Encephalitis	Speech apraxia, Skeletal muscle atrophy, Back pain, Incoordination, Facial palsy, Elevated circul...	ORPHA:297
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Ataxia, Arachnodactyly, Akinesia, Lipodystrophy, Tremor, Ina...	ORPHA:86309
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Hypoglycemia, Hyperammonemia, Hyperleucinemia, Failure to thrive	OMIM:210210
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Tremor, Aortic valve atresia, Low anterior hairline, Dysmetria, Ketonuria,...	OMIM:220111
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Cowden Syndrome	Short stature, Ataxia, Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High...	ORPHA:201
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Hy...	ORPHA:71493
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, ...	ORPHA:672
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hepatom...	ORPHA:3008
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Encephalocraniocutaneous Lipomatosis	Lipoma, Alopecia, Multiple central nervous system lipomas, Subcutaneous lipoma	OMIM:613001
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Linear Nevus Sebaceus Syndrome	Alopecia, Vertebral segmentation defect	ORPHA:2612
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Subcutaneous lipoma, Hyperca...	ORPHA:97278
Caroli Disease	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Wei...	ORPHA:53035
Pemphigus Vulgaris	Weight loss	ORPHA:704
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Proximal muscle weakness in upper lim...	ORPHA:79276
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Rat-Bite Fever	Back pain, Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Weight loss, Anemia, Tendoniti...	ORPHA:31205
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie...	ORPHA:221
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, El...	ORPHA:97282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Myoclonus, Spasticity, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:253280
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Thoracic Outlet Syndrome	Abnormal rib morphology, Muscle weakness	ORPHA:97330
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, ...	ORPHA:457284
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Small for gestational age, Short stature, Secundum atrial septal...	OMIM:613355
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver...	OMIM:271520
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Diabetes mellitus, Subcutane...	ORPHA:97283
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Inguinal hernia, Genu recurvatum, Postnatal growth retardation, Hip dis...	ORPHA:90348
Blue Rubber Bleb Nevus	Pathologic fracture	OMIM:112200
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ...	OMIM:618775
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Short phil...	OMIM:619475
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Tremor, Hemolytic...	OMIM:274150
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Weight loss	ORPHA:90003
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Loss of eyelashes, Testicular mass, Abnormal ...	ORPHA:548
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Postencephalitic Parkinsonism	Camptocormia, Akinesia, Kyphosis, Generalized muscle weakness, Open mouth	ORPHA:97349
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha...	ORPHA:363618
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Orofacial cleft, High palate, Narrow chest, Prominent finge...	OMIM:309800
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanel...	ORPHA:2211
Autoimmune Polyendocrinopathy Type 3	Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insuffic...	ORPHA:227982
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Reactive Arthritis	Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Enthesitis, Weight loss, ...	ORPHA:29207
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance...	OMIM:619036
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Autoimmune Polyendocrinopathy Type 4	Alopecia, Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Thymoma, Anterior pituit...	ORPHA:227990
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Clubbing, Intraalveolar phospholipid accumulation, We...	ORPHA:747
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Small for gestational age, Growth delay, Hypoplasia of the zygomatic bone, High palate, Long phil...	OMIM:618500
Primary Sclerosing Cholangitis	Hepatomegaly, Renal insufficiency, Abnormal eosinophil morphology, Spider hemangioma, Portal hype...	ORPHA:171
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Short stature, Sparse axillary hair, Sparse pubic hair,...	OMIM:181270
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul...	ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Diabetes mellitus, Subcutane...	ORPHA:97280
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Sotos Syndrome	Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Abnormal vertebral ...	ORPHA:821
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Clubbing, Weight loss	ORPHA:79127
Cockayne Syndrome Type 3	Dry hair, Mild postnatal growth retardation, Carious teeth, Kyphosis, Flexion contracture, Unstea...	ORPHA:90324
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Cryptorchidism, Rib ...	OMIM:206900
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Ataxia,...	ORPHA:77293
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ...	OMIM:200110
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Spa...	OMIM:268300
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Weight loss	ORPHA:131
Listeriosis	Back pain, Pericarditis, Ataxia, Tremor, Myocarditis, Congestive heart failure, Rhabdomyolysis, E...	ORPHA:533
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hypoplasia of the z...	OMIM:613717
Coccidioidomycosis	Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Atypical scarring of skin, A...	ORPHA:228123
Medulloblastoma	Back pain, Total ophthalmoplegia, Ataxia, Cerebellar ataxia associated with quadrupedal gait, Dys...	ORPHA:616
Multiple System Atrophy 1, Susceptibility To	Anhidrosis, Orthostatic hypotension, Skeletal muscle atrophy, Ataxia, Urinary incontinence, Parki...	OMIM:146500
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Tr...	OMIM:234200
Phakomatosis Pigmentokeratotica	Cryptorchidism, Patchy alopecia, Hemiatrophy, Scoliosis, Hypophosphatemic rickets	ORPHA:2874
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Hyperoxaluria, Bone pain	OMIM:259900
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Subcu...	ORPHA:2969
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Yellow nails, Kyphosis, Micrognathia, Cleft palate, Cellulitis, Distichiasis	OMIM:153400
Boomerang Dysplasia	Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High, narrow palate, Abnormal sternum morphology, High palate, Scoliosis	OMIM:177850
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Biotinidase Deficiency	Alopecia, Ataxia, Limb muscle weakness, Hyperammonemia	ORPHA:79241
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Micropenis, Decreased circul...	OMIM:201750
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Leg muscle stiffness, Brad...	OMIM:615530
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentra...	ORPHA:91500
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Prominent metopic ridge, Tented upper lip vermilio...	ORPHA:2729
Biotinidase Deficiency	Alopecia, Ataxia, Hyperammonemia	OMIM:253260
Shprintzen Omphalocele Syndrome	Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Narrow chest, ...	OMIM:182210
Familial Pancreatic Carcinoma	Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Lymphadenopathy, Hepatosple...	ORPHA:1333
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati...	ORPHA:857
Klatskin Tumor	Weight loss	ORPHA:99978
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dys...	ORPHA:97685
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis	OMIM:106300
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
Pneumocystosis	Weight loss	ORPHA:723
Rett Syndrome, Congenital Variant	Thin upper lip vermilion, Kyphosis, Athetosis, Talipes equinovarus, Scoliosis	OMIM:613454
Pancreatoblastoma	Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph ...	ORPHA:677
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d...	ORPHA:1578
Alagille Syndrome 1	Hypoplasia of the ulna, Hypertriglyceridemia, Abnormal rib morphology, Hemivertebrae, Hypercholes...	OMIM:118450
Pyomyositis	Renal insufficiency, Myositis, Sudden cardiac death, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Nocardiosis	Pericarditis, Abnormal heart valve morphology, Lymphadenitis, Thyroiditis, Endocarditis, Weight l...	ORPHA:31204
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis, Ophthalmoplegia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Neck muscle weakness, Dif...	ORPHA:171629
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Talipes equinovaru...	OMIM:100300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hype...	ORPHA:52417
Relapsing Polychondritis	Arthritis, Alopecia, Limitation of joint mobility, Recurrent aphthous stomatitis	ORPHA:728
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay	ORPHA:309031
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Pseudo-Torch Syndrome 2	Thin ribs	OMIM:617397
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, W...	ORPHA:79078
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Flexion contracture, Weight loss, Arthritis, Onycholysis, Nail dystrophy, Mu...	ORPHA:99921
Systemic Lupus Erythematosus	Alopecia, Cheilitis, Oral ulcer, Abnormal pigmentation of the oral mucosa, Arthritis	ORPHA:536
Leptospirosis	Hyperproteinemia	ORPHA:509
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100086
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness	ORPHA:43393
Sympathetic Ophthalmia	Alopecia, Poliosis	ORPHA:79098
Tropical Pancreatitis	Weight loss	ORPHA:103918
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Pagod Syndrome	Omphalocele, Abnormal clavicle morphology, Short stature, Congenital diaphragmatic hernia, Abnorm...	ORPHA:991
Behcet Syndrome	Arthritis, Patchy alopecia, Oral ulcer	OMIM:109650
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Difficulty walking, Scoliosis	OMIM:619482

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 Zmpste24

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 Zmpste24.

No publications found that use IMPC mice or data for Zmpste24.

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
Zmpste24^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Zmpste24^{tm36692(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Zmpste24^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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