Gene: Hoxa11 MGI:96172

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

homeobox A11

Synonyms:

Hox-1.9, Hoxa-11

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 Hoxa11 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 Hoxa11 (2 diseases)
Human diseases predicted to be associated with Hoxa11 (1694 diseases)

The table below shows human diseases associated to Hoxa11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome		Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1		Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432

The table below shows human diseases predicted to be associated to Hoxa11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Spermatogenic Failure 17	Male infertility	OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Distal Symphalangism	Joint stiffness, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, C...	ORPHA:3248
Radial Hemimelia	Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of...	ORPHA:93321
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b...	OMIM:102510
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Arthrogryposis, Distal, Type 11	Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore...	OMIM:620019
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Symphalangism, C. S. Lewis Type	Synostosis involving the 1st metacarpal	OMIM:185650
Humeroradial Synostosis	Humeroradial synostosis	OMIM:143050
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Craniosynostosis, Adelaide Type	Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co...	OMIM:600593
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de...	ORPHA:1570
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Symphalangism, Proximal, 1B	Short 2nd finger, Clinodactyly of the 5th finger, Proximal/middle symphalangism of 5th finger, Ab...	OMIM:615298
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Decreased testicular size, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st...	OMIM:182255
Symphalangism, Proximal, 1A	Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn...	OMIM:185800
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Digitotalar Dysmorphism	Ulnar deviation of finger, Rocker bottom foot, Camptodactyly of finger	OMIM:126050
Congenital Vertical Talus	Abnormality of the foot musculature, Equinus calcaneus, Pes valgus, Pes planus, Lower extremity j...	ORPHA:178382
Synostoses, Tarsal, Carpal, And Digital	Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Radial head subluxatio...	OMIM:186400
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,...	ORPHA:1275
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Cervical Rib	Cervical ribs	OMIM:117900
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals	OMIM:269630
Langer Mesomelic Dysplasia	Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s...	ORPHA:2632
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Syndactyly	OMIM:241000
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Decreased fertility, Abnormal morphology of ulna, Short neck, Abnormal metacarpal m...	ORPHA:2233
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Androgen Insensitivity, Partial	Abnormal rib cage morphology, Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonad...	OMIM:312300
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit...	ORPHA:2141
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial...	ORPHA:2249
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel...	ORPHA:1350
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos...	OMIM:271650
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Fibular Aplasia-Complex Brachydactyly Syndrome	Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel...	ORPHA:2639
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro...	ORPHA:93351
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, Sagittal craniosynostosis, Cutaneous syndactyl...	OMIM:185900
Caudal Appendage-Deafness Syndrome	Caudal appendage, Cryptorchidism, Abnormal digit morphology	ORPHA:1123
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca...	ORPHA:50809
Steel Syndrome	Carpal synostosis, Lumbar hyperlordosis, Limited elbow extension, Coxa vara, Clinodactyly of the ...	OMIM:615155
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Premature Ovarian Failure 22	Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:620548
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypopl...	ORPHA:2491
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormal form of the vertebral bodies, Abnormal morphology of ulna, Abnormal meta...	ORPHA:3104
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Decreased response to growth hormone stimulation tes...	ORPHA:1263
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl...	OMIM:607078
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila...	ORPHA:1972
Arthrogryposis, Distal, Type 1A	Hand clenching, Joint contracture of the hand, Congenital hip dislocation, Elbow flexion contract...	OMIM:108120
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Elbow dislocat...	ORPHA:968
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae...	ORPHA:2064
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ...	OMIM:612447
Solitary Bone Cyst	Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Abnormality of...	ORPHA:83468
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Paternal Uniparental Disomy Of Chromosome X	Decreased testicular size, Cubitus valgus, Short neck, Micropenis, Infertility, Shield chest, Sho...	ORPHA:261524
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Bowen-Conradi Syndrome	Micrognathia, Clinodactyly of the 5th finger, Rocker bottom foot, Abnormal joint morphology	OMIM:211180
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Limitation of joint mobility...	ORPHA:2741
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius	OMIM:179250
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Osteochondritis dissecans, Tarsal stippling, Arth...	ORPHA:563991
Fibular Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna	ORPHA:1118
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Smith-Mccort Dysplasia 2	Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged interphalangeal joi...	OMIM:615222
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Distal Arthrogryposis Type 1	Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin...	ORPHA:1146
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormality of the ankle, Carpal synostosis	ORPHA:2010
Endometriosis, Susceptibility To, 1	Decreased fertility, Endometriosis, Dysmenorrhea	OMIM:131200
Ruvalcaba Syndrome	Pectus carinatum, Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Narr...	ORPHA:3121
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H...	ORPHA:2256
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Thoracic hemivertebrae, Azoospermia, Abnormal thorax morphology, Narrow...	ORPHA:1445
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific...	OMIM:105835
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification...	OMIM:617974
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Camptodactyly of finger, Azoospermia, Cubitus valgus, Short neck, Ambiguous g...	ORPHA:261519
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Delayed...	ORPHA:99330
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Elbow d...	ORPHA:90650
Ulna Metaphyseal Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho...	ORPHA:1837
Talonavicular Coalition	Abnormality of the ankle, Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangis...	OMIM:186750
Acrodysostosis	Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal...	ORPHA:950
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit...	OMIM:614078
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Craniosynostosis, Distal foot symphalangism, Absent...	OMIM:185700
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Arthrogryposis, Distal, Type 1B	Joint contracture of the hand, Foot joint contracture, Talipes equinovarus, Camptodactyly, Rocker...	OMIM:614335
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the han...	OMIM:601680
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Short 4th metacarpal, Short neck, Cubitus valgus, Abnormality of the hypothalamus-pi...	ORPHA:2183
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Seckel Syndrome 7	Madelung deformity, Primary amenorrhea, Hip dysplasia, Clinodactyly of the 5th finger, Hypoplasia...	OMIM:614851
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Pes pla...	OMIM:618395
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia	ORPHA:2252
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Abnormality of the cervical spine, Male hypogonadism, Hypergonadotropic hypogonadism, Superior ri...	OMIM:307500
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro...	ORPHA:325124
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia	OMIM:277150
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal...	ORPHA:3268
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Cryptorchidism, Micropenis, Hypoplasia of penis, Tapered finger	ORPHA:85274
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Neuropathy, Congenital, With Arthrogryposis Multiplex	Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limbs	OMIM:162370
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Mietens Syndrome	Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Elbow ankylosis,...	ORPHA:2557
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan...	OMIM:186500
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Broad metacarpals, Kyphosis	OMIM:277950
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cryptorchidism	OMIM:274205
Tetrasomy X	Clinodactyly of the 5th finger, Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dy...	ORPHA:9
Mueller-Weiss Syndrome	Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of ...	ORPHA:566943
Bowen-Conradi Syndrome	Camptodactyly of finger, Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, Rocker bot...	ORPHA:1270
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Pectus ...	ORPHA:376
48,Xyyy Syndrome	Male hypogonadism, Azoospermia, Radioulnar synostosis, Short neck, Dislocated radial head, Primar...	ORPHA:99329
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon...	OMIM:614840
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Delayed skeletal maturation, Decreased serum testos...	ORPHA:52901
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Elbow ankylosi...	ORPHA:3266
Juberg-Hayward Syndrome	Decreased response to growth hormone stimulation test, Limited elbow extension, Abnormal toe morp...	OMIM:216100
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br...	OMIM:223800
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial...	ORPHA:457395
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, External genital hypoplasia, Narrow palm, Hypogonadotropic hypogonadism, Short foot, ...	ORPHA:177910
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Decreased testicular size, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Vertebral segmentation defect, Short neck, Abnorma...	ORPHA:2578
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma...	ORPHA:2633
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
48,Xxyy Syndrome	Elbow dislocation, Abnormal shoulder morphology, Decreased testicular size, Azoospermia, Clinodac...	ORPHA:10
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Hypog...	ORPHA:2234
Acheiropody	Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Hypoplastic scapulae, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Mesomelia-Synostoses Syndrome	Synostosis of joints, Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal b...	ORPHA:2496
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s...	OMIM:178110
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Abnormality of the calcaneus, Limited mobility of p...	ORPHA:85438
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Hypogonadism, Decrea...	OMIM:229070
Xq27.3Q28 Duplication Syndrome	Small hand, Delayed skeletal maturation, Hypogonadism, Decreased testicular size, Cryptorchidism,...	ORPHA:261483
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Abnormal form of the vertebral ...	ORPHA:3258
Normosmic Congenital Hypogonadotropic Hypogonadism	Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li...	ORPHA:432
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ul...	OMIM:212780
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h...	ORPHA:3329
Acrorenal Syndrome	Abnormal tibia morphology, Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna	ORPHA:971
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Joint stiffness, Abnormal...	ORPHA:1323
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ...	ORPHA:2438
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Hypoplastic i...	OMIM:225500
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre...	OMIM:184252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi...	ORPHA:314795
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Delayed skeletal maturation, Abnormal ulnar meta...	ORPHA:85198
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
W Syndrome	Clinodactyly, Radial bowing, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia...	ORPHA:2804
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Postaxial Acrofacial Dysostosis	Finger syndactyly, Supernumerary nipple, Camptodactyly of finger, Micrognathia, Hypoplasia of the...	ORPHA:246
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl...	ORPHA:3320
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Elbow flexion contracture, Micrognathia, Limited elbow movement, Tali...	OMIM:615065
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Delayed skeletal maturation, Decreased testicular size, Azoospermia, Absence of puber...	OMIM:614837
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Supernumerary nipple, Cryptorch...	OMIM:263750
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Decreased testicular size, Cryptorchidism, Large hands, Scoliosis	ORPHA:85287
Diamond-Blackfan Anemia 11	Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the...	OMIM:614900
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Satoyoshi Syndrome	Abnormal epiphysis morphology, Abnormality of the uterus, Abnormal joint morphology, Abnormality ...	ORPHA:3130
Nievergelt Syndrome	Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Radial head subluxation, Meta...	OMIM:163400
Silver-Russell Syndrome	Precocious puberty, Abnormal male external genitalia morphology, Lower limb asymmetry, Sandal gap...	ORPHA:813
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased response to growth horm...	ORPHA:2980
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Arthrogryposis, Distal, Type 1C	Shoulder flexion contracture, Camptodactyly of finger, Elbow flexion contracture, Cryptorchidism,...	OMIM:619110
Morbid Obesity And Spermatogenic Failure	Infertility, Azoospermia, Type II diabetes mellitus, Oligozoospermia	OMIM:615703
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Epiphyseal dysplasia, Hypoplastic ilia, Osteopenia, Flared metaphysis, Carpal syno...	OMIM:615349
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Short n...	OMIM:271640
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
48,Xxxy Syndrome	Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul...	ORPHA:96263
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r...	OMIM:602418
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Talipes equinovalgus, Clinodactyly, Overlap...	OMIM:618435
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly	ORPHA:357175
Cryptorchidism, Unilateral Or Bilateral	Unilateral cryptorchidism, Cryptorchidism	OMIM:219050
3M Syndrome	Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Micromelia, Hypop...	ORPHA:2616
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho...	ORPHA:1106
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Short foot, Cryptorchidism, Tapered finger	OMIM:309585
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs...	ORPHA:40366
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Otopalatodigital Syndrome Type 2	Hypospadias, Narrow chest, Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal syn...	ORPHA:90652
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Increased bone mineral density, ...	ORPHA:2777
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Genu recurvatum, Pes planus, Calcaneovalgus deformity	OMIM:225320
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Hyperlordosis, Brachydact...	ORPHA:710
Hao-Fountain Syndrome	Premature adrenarche, Delayed cranial suture closure, Cryptorchidism, Hallux valgus, Micropenis, ...	OMIM:616863
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydactyly, Brachydactyly, Syndactyly	OMIM:615982
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ...	OMIM:610797
Omodysplasia 2	Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm...	OMIM:164745
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Short femoral neck, Proximal femora...	OMIM:602271
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Image Syndrome	Micromelia, Hypogonadism, Cryptorchidism, Adrenal hypoplasia, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly	OMIM:615162
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Arthritis, Infertility	OMIM:602390
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,...	OMIM:619135
Larsen-Like Syndrome	Joint dislocation, Radial deviation of the 4th finger, Talipes equinovarus, Bipartite calcaneus, ...	OMIM:608545
49,Xxxxy Syndrome	Small scrotum, Abnormal epiphysis morphology, Elbow dislocation, Hypogonadism, Decreased testicul...	ORPHA:96264
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital ptery...	OMIM:618469
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Bowing of the long bones, Abno...	ORPHA:628
Hand-Foot-Genital Syndrome	Ulnar deviation of the 2nd finger, Chordee, Short hallux, Small thenar eminence, Hypospadias, Sho...	OMIM:140000
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Elbow flexion contracture, 11 pairs of ribs, Micrognathia, Knee flexion contracture, Hip contract...	OMIM:616266
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul...	ORPHA:95699
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Absent Achilles reflex, Pes planus, Hyporeflexia of lower limbs, Cal...	ORPHA:93952
47,Xyy Syndrome	Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Micropenis, Increased serum testost...	ORPHA:8
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Cervica...	OMIM:301900
Three M Syndrome 3	Clinodactyly of the 5th finger, Prominent calcaneus, Slender long bone, Hip dysplasia	OMIM:614205
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of...	ORPHA:2619
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme...	OMIM:609813
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Postaxial ...	OMIM:615633
Ruvalcaba Syndrome	Small hand, Narrow chest, Micromelia, Limited elbow extension, Cryptorchidism, Short phalanx of f...	OMIM:180870
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Jackson-Weiss Syndrome	Coronal craniosynostosis, Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first m...	OMIM:123150
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Uterus didelphys, Rudimentary to abs...	ORPHA:958
7P22.1 Microduplication Syndrome	Cryptorchidism	ORPHA:314034
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita...	OMIM:181450
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou...	OMIM:148820
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo...	ORPHA:1801
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Spondylocostal Dysostosis 5	Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai...	OMIM:122600
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Clinodactyly, Short middle phalanx of toe, Radial deviatio...	OMIM:602849
Dysplasia Epiphysealis Hemimelica	Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Abnormal fe...	ORPHA:1822
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Cryptorchidism, Patellar apl...	ORPHA:3103
Osteomesopyknosis	Low back pain, Infertility, Increased bone mineral density	OMIM:166450
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Primar...	OMIM:614880
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal...	ORPHA:2319
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Cutaneous finger syndactyly,...	ORPHA:896
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Accelerated skeletal maturation, Oligozoospermia, Macroorchidism,...	ORPHA:3000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Delayed skeletal maturation, Decreased testicular size, Hyperinsulinemia, Ty...	ORPHA:3085
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Cryptorchidism, Supernumerary ribs, Patellar subluxation, Bilateral talipes ...	ORPHA:2958
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Thoracic Dysostosis, Isolated	Pectus excavatum, Bell-shaped thorax, Short ribs	OMIM:187750
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Cryptorchidism, Short neck, Camptodactyly, Rocker bottom foot, Arthrogryposis m...	OMIM:618393
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Female infertility, Delayed skeletal maturation, Mal...	ORPHA:91
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, J...	ORPHA:1005
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Abnormal rib...	ORPHA:1988
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Equinovarus deformity, Micrognathia, Triphalangeal thumb, Rocker bott...	ORPHA:3078
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Young Syndrome	Azoospermia	OMIM:279000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormality of the vertebral column, Azoospermia, Sprengel anomaly, Abnormal rib morphology, Hypo...	OMIM:601076
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Tarsal synostosis, Short foot...	ORPHA:53271
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Hypoplastic scapulae, Toe syndactyly, Absent nipple, Uterus didelphys, Rudime...	OMIM:200980
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Decreased testicular size, Abnormal hip bo...	ORPHA:251028
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Osteoporos...	ORPHA:397685
Intellectual Disability, Wolff Type	Hypospadias, Short distal phalanx of finger, Broad thumb, Limitation of joint mobility, Delayed s...	ORPHA:3080
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Hand clenching, Arthrogryposis multiplex congenita, Congenital knee dislocation, Cryptorchidism, ...	ORPHA:319332
3Q13 Microdeletion Syndrome	Narrow chest, Joint stiffness, Cryptorchidism, Abnormality of the hand, Short neck, Hypoplasia of...	ORPHA:1621
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Aplasia/Hypopla...	ORPHA:2911
Distal Duplication 5Q	Absent thumb, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Brachydactyly,...	ORPHA:96097
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Knee dislocation, Talipes equinovalgus, Access...	OMIM:150250
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the va...	OMIM:271520
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Prieto Syndrome	Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Cryptorchidism, Talipes equinovarus, ...	OMIM:309610
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s...	ORPHA:753
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Bilateral single transverse palmar creases, Short neck, Scoliosis, Ky...	ORPHA:3191
Ulnar-Mammary Syndrome	Decreased fertility, Cryptorchidism, Abnormal metacarpal morphology, Sprengel anomaly, Aplasia/Hy...	ORPHA:3138
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Polydactyly-Myopia Syndrome	Cryptorchidism, Postaxial hand polydactyly	ORPHA:2917
X-Linked Intellectual Disability, Miles-Carpenter Type	Hypogonadism, Rocker bottom foot	ORPHA:85283
Wilson-Turner Syndrome	Small hand, Cryptorchidism, Hypogonadotropic hypogonadism, Short foot, Tapered finger	ORPHA:3459
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Clinodactyly, Bell-shaped thorax, Cryptorchidism, Single tran...	ORPHA:178148
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormality of the wris...	ORPHA:1307
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Hypoplasia of the radius,...	OMIM:613390
Three M Syndrome 2	Short 5th finger, Slender long bone, Clinodactyly, Prominent calcaneus, Scapular winging	OMIM:612921
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification of carpal bones	OMIM:618392
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hypoplasi...	OMIM:226980
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Delayed skeletal maturation, Absence of secondary se...	ORPHA:163976
Classical-Like Ehlers-Danlos Syndrome Type 2	Radioulnar dislocation, Joint dislocation, Elbow dislocation, Sandal gap, Knee dislocation, Abnor...	ORPHA:536532
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Metatropic Dysplasia	Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap...	ORPHA:2635
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Microcephalic Primordial Dwarfism, Dauber Type	Madelung deformity, Primary amenorrhea, Limb undergrowth, Bilateral breast hypoplasia, Hip dyspla...	ORPHA:319675
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Accele...	ORPHA:1354
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Cryptorchidism, Talipes eq...	OMIM:108720
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Genu valgum, Beaking of vertebral bodie...	ORPHA:1159
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Hypogonadism, Decreased testicular size, Cryptorchidism, Arachnoda...	OMIM:612513
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Preaxial foot polydactyly, External genital hypop...	ORPHA:65759
Martsolf Syndrome 1	Cryptorchidism, Talipes equinovarus, Broad fingertip, Finger joint hypermobility, Short metacarpa...	OMIM:212720
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor...	OMIM:620076
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841

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