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Genes Phenotypes Help, News, Blog

Gene: Arid5b MGI:2175912

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
AT-rich interaction domain 5B
Synonyms:
5430435G07Rik,  Mrf2alpha,  Desrt,  Mrf2beta,  Mrf2

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 Arid5b 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Arid5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Lipoma OMIM:151800
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Lipomatosis, Familial Multiple
Multiple lipomas OMIM:151900
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Eiken Syndrome
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Caudal Appendage-Deafness Syndrome
Cryptorchidism, Short stature ORPHA:1123
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, High palate, Delayed puberty, Clinoda... ORPHA:217340
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Obesity, Growth delay, Delayed puberty, Failure to thrive, Polyphagia, ... ORPHA:71526
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Short stature, Short neck, Micrognathia, Cleft palate, Short nose, Abnormal ver... ORPHA:2015
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... OMIM:605274
Bowen-Conradi Syndrome
Death in infancy, Short stature, Cryptorchidism, Severe postnatal growth retardation, Severe intr... ORPHA:1270
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Mirage Syndrome
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Cryp... OMIM:617053
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Hypospadias, Prominent nasal bridge, Hypoplasia of the... OMIM:265050
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the ut... OMIM:619151
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism, Micropenis ORPHA:85274
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen... OMIM:614886
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Xq27.3Q28 Duplication Syndrome
Short stature, Cryptorchidism, Truncal obesity, Hypogonadism, Intrauterine growth retardation, Fa... ORPHA:261483
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Verheij Syndrome
Vertebral fusion, Small for gestational age, Anteverted nares, Short stature, Short neck, Broad n... OMIM:615583
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd ... OMIM:156510
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short neck, Micrognathia, Oligosacchariduria, Thoracic kyphosis, High palate, Abnormal femoral ne... ORPHA:163649
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Non-Distal Duplication 10Q
Depressed nasal bridge, Short stature, Micrognathia, Abnormality of the urinary system, High pala... ORPHA:1695
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly, Sho... OMIM:300577
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Femoral-Facial Syndrome
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Short st... ORPHA:1988
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Short neck, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Intrauteri... ORPHA:1832
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Hao-Fountain Syndrome
Cryptorchidism, Micropenis, Premature adrenarche OMIM:616863
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Malar flattening, Short nose, R... OMIM:613670
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti... OMIM:155050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Cervical kyphosis, Rhizomeli... OMIM:108721
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo... OMIM:300400
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Miller-Dieker Syndrome
Sacral dimple, Anteverted nares, Growth delay, Lissencephaly, Clinodactyly of the 5th finger, Nep... ORPHA:531
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Even-Plus Syndrome
Epiphyseal dysplasia, Recurrent urinary tract infections, Severe short stature, Short neck, Bifid... OMIM:616854
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Obesity, Aggressive behavior ORPHA:329249
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
N Syndrome
Cryptorchidism, Hypospadias ORPHA:2608
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Delaye... ORPHA:2598
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali... OMIM:201170
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Van Maldergem Syndrome 1
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Simplified gyral pattern, Anter... OMIM:601390
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Severe short stature, Small for gestational age, Hypogonadotropic hypogonadi... OMIM:275400
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Micrognathia, Abnormality of t... ORPHA:2145
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, ... OMIM:166300
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
46,Xy Sex Reversal 4
Renal dysplasia, Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Elevated c... OMIM:154230
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
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
Diaphanospondylodysostosis
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Short neck, Dep... OMIM:608022
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short stature, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip... ORPHA:2370
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis ORPHA:1450
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Advanc... OMIM:614753
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Small for gestational age, Short stature, Hypoplasia of the maxilla, Cl... OMIM:614261
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Multilobulated spleen, Hypoplasia of the ute... OMIM:601186
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Prominent n... ORPHA:1307
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa... OMIM:246560
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Brachydactyly, Hypospadias, Anteverted nares, Depressed ... OMIM:614613
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Platyspondyly, Abnormal epiphysis morpho... ORPHA:90653
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... ORPHA:3363
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Hydroureter, Anteverted nares, Abnormal dental ename... ORPHA:1458
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Short stature, Decreased body weight OMIM:616681
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Gracile Bone Dysplasia
Death in infancy, Short stature, Asplenia, Hypoplastic spleen, Micropenis, Failure to thrive OMIM:602361
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Distal Duplication 18Q
Hypoplasia of penis, Anteverted nares, Choanal atresia, Prominent nasal bridge, Short neck, Cario... ORPHA:1716
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ... ORPHA:2614
Obesity Due To Sim1 Deficiency
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Increased resting energy expenditure ORPHA:369873
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Marshall-Smith Syndrome
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptos... OMIM:602535
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Small for gestational age, Hypospadias, Depressed nasal bridge, Short ne... OMIM:614541
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide... OMIM:619736
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Pierpont Syndrome
Short palm, Wide nose, Short stature, Short neck, Broad nasal tip, Short toe, Short foot, Scolios... OMIM:602342
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
17P13.3 Microduplication Syndrome
Wide nose, Hypoplasia of penis, Congenital hip dislocation, Short neck, High palate, Clinodactyly... ORPHA:217385
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Shyness, Cryptorchidism, Increased ci... ORPHA:163971
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Peho-Like Syndrome
Tapered finger, Retrognathia, Lissencephaly, Short nose, Pachygyria, Polymicrogyria OMIM:617507
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Short neck, Beaded ribs, Flexion contracture, Micropenis, Hypospadias, Anteverted n... OMIM:616897
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Death in childhood, Intrauterine growth retardation, Micropenis, F... OMIM:615597
Hydatidiform Mole
Hyperthyroidism, Miscarriage, Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Gordon Syndrome
Cryptorchidism, Short stature ORPHA:376
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose, Failure to thrive OMIM:618379
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
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
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Short stature, Coxa ... ORPHA:166272
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... ORPHA:2639
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short stature, Hypospadias, Depressed nasal ridge, Short nose ORPHA:1355
X-Linked Intellectual Disability, Siderius Type
Cryptorchidism, Decreased testicular size ORPHA:85287
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... ORPHA:1529
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Short stature, Micrognathia, Postaxial hand polydactyly, ... OMIM:241800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Spastic Paraplegia 16, X-Linked
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... OMIM:300266
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Miscarriage, Hydrocele testis, Increased serum testosterone level, Intraute... ORPHA:96181
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Gro... ORPHA:85282
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ... ORPHA:171839
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Short stature ORPHA:408
3Q13 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:1621
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
1Q21.1 Microduplication Syndrome
Cryptorchidism, Failure to thrive, Hypospadias ORPHA:250994
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature OMIM:601076
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneo... OMIM:615546
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyperinsulinemia, Obesity, Seconda... ORPHA:3085
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Frontonasal Dysplasia 1
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas... OMIM:136760
Tetralogy Of Fallot
Cryptorchidism, Intrauterine growth retardation ORPHA:3303
Hereditary Renal Hypouricemia
Back pain, Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild... ORPHA:94088
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Leukodystrophy, Hypomyelinating, 21
Growth delay, Cryptorchidism, Failure to thrive, Hypogonadotropic hypogonadism OMIM:619310
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Chromosome 15Q26-Qter Deletion Syndrome
Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retard... OMIM:612626
3C Syndrome
Hypoplasia of penis, Short neck, Micrognathia, High, narrow palate, Hemivertebrae, Finger syndact... ORPHA:7
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Acrodysostosis
Mandibular prognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metatarsal, Abnorm... ORPHA:950
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Hallux valgus, Sacral dimple, Toe syndactyly, Anteverted nares, Depressed ... ORPHA:1327
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Short stature, Polycystic ovaries, Aplasia/Hypoplasia of th... ORPHA:100
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... OMIM:101800
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Eryth... OMIM:612541
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 3rd finger, Contractu... OMIM:617201
Acromicric Dysplasia
Short metacarpal, Severe short stature, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, S... ORPHA:969
N Syndrome
Cryptorchidism, Leukemia, Hypospadias OMIM:310465
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Cenani-Lenz Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Synostosis of carp... ORPHA:3258
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, High palate, ... OMIM:300676
Smith-Magenis Syndrome
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... ORPHA:819
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Leptin Receptor Deficiency
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior OMIM:614963
Image Syndrome
Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogonadism, Intrauterine growth retardation ORPHA:85173
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Female hypogonadism, Short stature, Abnormal spermatogenesis, T l... OMIM:208900
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Anterior rib... OMIM:269250
Stt3B-Cdg
Small scrotum, Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive, Th... ORPHA:370924
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Three M Syndrome 1
Mandibular prognathia, Joint dislocation, Short neck, Increased vertebral height, Clinodactyly of... OMIM:273750
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Recon Progeroid Syndrome
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... OMIM:620370
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Kyphosis, Truncal obesity, Scoliosis, Short nose ORPHA:2429
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Short stature, Camptodactyly of f... ORPHA:915
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Depressed nasal bridge, Micrognathia, High palate, Toe clinodactyly, Short nose ORPHA:261120
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Short stature, Micrognathia, Bulbous nose, Clinodactyly, Wide nasal bridge, Gro... OMIM:613604
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot ... OMIM:206920
Aicardi Syndrome
Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Hia... OMIM:304050
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Prominent nasal bridge, Shor... OMIM:216550
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Borjeson-Forssman-Lehmann Syndrome
Short stature, Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis OMIM:301900
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Micro... ORPHA:1358
Tibial Hemimelia
Absent tibia OMIM:275220
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... ORPHA:93110
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... ORPHA:1225
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
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
14Q11.2 Microduplication Syndrome
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:261229
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
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Osteoglophonic Dysplasia
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Cryptorchidism, Small for gestational age ORPHA:319332
Acrocephalopolydactyly
Genu recurvatum, Short neck, Abnormal renal morphology, Depressed nasal ridge, Short long bone, S... ORPHA:221054
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... OMIM:202010
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron... ORPHA:391372
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Short stature, Adrenal hypopl... ORPHA:95496
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Short stature, Small for gestational age, Hypoplasia of the maxilla, Cubitus valgus, Genu valgum,... OMIM:608154
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Micrognathia, Sho... ORPHA:96184
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, Short neck, Short... OMIM:613320
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... OMIM:218000
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Distal Deletion 10Q
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder... ORPHA:96148
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni... OMIM:602450
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Growth delay, Intraute... ORPHA:1495
Dental Anomalies And Short Stature
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Platyspondyly, Herniation of int... OMIM:601216
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Endocardial Fibroelastosis
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism ORPHA:2022
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Short neck, Micrognathia, U... ORPHA:2083
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Anemia OMIM:620135
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Meier-Gorlin Syndrome 8
Bilateral cryptorchidism, Intrauterine growth retardation, Decreased body weight OMIM:617564
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Lumbar hemivertebrae, Metop... OMIM:190440
Retinitis Pigmentosa 59
Hepatomegaly, Cryptorchidism, Intrauterine growth retardation, Micropenis, Failure to thrive OMIM:613861
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammator... ORPHA:49041
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala... ORPHA:254531
Cockayne Syndrome Type 1
Mandibular prognathia, Renal insufficiency, Proteinuria, Foot joint contracture, Delayed eruption... ORPHA:90321
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cryptorchidism, Intrauterine growth retardation ORPHA:2489
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... OMIM:251230
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... ORPHA:56305
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Baraitser-Winter Syndrome 1
Failure to thrive, Anteverted nares, Short stature, Short neck, Postnatal growth retardation, Dup... OMIM:243310
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Clinodactyly, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hem... OMIM:268310
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Short stature, Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the... ORPHA:85279
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Synda... OMIM:305400
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Stuve-Wiedemann Syndrome 1
Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Anteverted nares, Depressed nasal bridge, Increased interve... OMIM:618961
Fetal Akinesia Deformation Sequence 4
Neonatal death, Cryptorchidism, Prenatal death OMIM:618393
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:93262
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism, Death in infancy, Death in childhood OMIM:618766
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Skeletal muscle atrophy, Micrognathia, Postnatal growth retardation, Joint contract... OMIM:615419
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity ORPHA:411515
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... ORPHA:163966
Schaaf-Yang Syndrome
Failure to thrive in infancy, Short stature, Impulsivity, Flexion contracture, Obesity, Skin-pick... OMIM:615547
Cornelia De Lange Syndrome 5
Toe syndactyly, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Short neck, Mic... OMIM:300882
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Short neck, Knee flexion contracture, High palate, Spin... OMIM:193700
Dysostosis, Stanescu Type
Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Short stature... ORPHA:1798
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Malabsorption... ORPHA:50
Perlman Syndrome
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, High, narrow palate, Wide na... ORPHA:2849
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occ... ORPHA:1514
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Tapered finger, Obesity, Hip dysplasia, High palate, Clinodactyly... OMIM:617991
Autosomal Dominant Omodysplasia
Short humerus, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislo... ORPHA:93328
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity, Short stature ORPHA:3459
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Coffin-Siris Syndrome 8
Cryptorchidism, Failure to thrive OMIM:618362
Lowry-Maclean Syndrome
Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Micrognathia, Recurren... ORPHA:3078
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology ORPHA:401942
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impote... OMIM:235200
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Depressed nasal bridge, ... OMIM:614732
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Fetal Trimethadione Syndrome
Depressed nasal bridge, Hypospadias, Micrognathia, High palate, Scoliosis, Intrauterine growth re... ORPHA:1913
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Microphthalmia, Syndromic 12
Neonatal death, Cryptorchidism, Bicornuate uterus OMIM:615524
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Short stature, Prominent nasal bridge, Hypoplasia of the premaxilla, Unila... ORPHA:2673
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating creatine kinase concentration, Micrognathia, Congenital contracture, High pa... OMIM:615042
Congenital Heart Defects And Skeletal Malformations Syndrome
Hypospadias, Intestinal malrotation, Narrow nose, Short stature, Carious teeth, Kyphosis, Long no... OMIM:617602
Micro Syndrome
Hypoplasia of penis, Anteverted nares, Short stature, Micrognathia, Kyphosis, Wide nasal bridge, ... ORPHA:2510
Chromosome 6Q11-Q14 Deletion Syndrome
Sacral dimple, Short stature, Prominent nasal bridge, Broad nasal tip, Short neck, Micrognathia, ... OMIM:613544
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Norm... OMIM:610198
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Proteinuria, Short neck, Metaphyseal widening, Flexion contracture, Clubbing, Wide nas... OMIM:617303
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Kyphoscoliosis, Hip dislocation, Retrognathia, Wide nasal bridge, Nephrocalcinosis... OMIM:618005
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fon... OMIM:219200
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Sacral dimple, Anteverted nares, Micrognathia, Pachygyria, Wide nasal ... OMIM:247200
Alazami-Yuan Syndrome
Cryptorchidism, Short stature OMIM:617126
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasa... ORPHA:261295
Birk-Aharoni Syndrome
Cryptorchidism, Micropenis, Failure to thrive, Macrocytic anemia OMIM:620071
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Kyphosis, Abnormality of the elbow,... ORPHA:3121
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Small for gestational age, Anteverted nares, Kyphoscoliosis, Short neck, Micrognathia,... ORPHA:391408
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Wide nose, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circ... OMIM:300280
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Short stature, Hypoplasia of the maxilla, Decre... ORPHA:93950
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Spondylocarpotarsal Synostosis Syndrome
Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,... OMIM:272460
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, High palate, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Sho... OMIM:613792
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Meckel Syndrome, Type 8
Short neck, Depressed nasal ridge, Cleft palate, Polydactyly, Polycystic kidney dysplasia, Short ... OMIM:613885
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Satoyoshi Syndrome
Hypoplasia of the uterus, Short stature, Amenorrhea OMIM:600705
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Short neck, Micrognathia, Disproportionate short stature,... ORPHA:93298
Warburg Micro Syndrome 3
Decreased muscle mass, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contra... OMIM:614222
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Abnormality of neuronal migration,... ORPHA:1895
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Short stature, Coronal hyp... OMIM:619859
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... OMIM:618165
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Type II... ORPHA:2377
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Death in infancy, Autoimmune hemolyti... OMIM:243150
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Immunodeficiency 9
Death in infancy, Failure to thrive, Hypoplasia of the thymus OMIM:612782
Lujan-Fryns Syndrome
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... ORPHA:776
C Syndrome
Short metacarpal, Toe syndactyly, Anteverted nares, Short stature, Micrognathia, Clinodactyly, Po... OMIM:211750
Wagr Syndrome
Short stature, Cryptorchidism, Obesity, Ambiguous genitalia, Displacement of the urethral meatus ORPHA:893
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c... OMIM:600920
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Hip dysplasia, 3-Methylglutaconic aciduria, Scoliosis, Delay... ORPHA:496790
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... ORPHA:314478
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Mic... OMIM:601224
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Short stature, Periventricular heterotopia, Micrognathia, Coxa valga, Ham... OMIM:619833
Keipert Syndrome
Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short stature, Short hallux... ORPHA:2662
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Type I diabetes mellitus, Cryptorchidism, Short stature, Anemia ORPHA:1192
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Small for gestational age, Wide nasal bridge OMIM:618302
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate ve... ORPHA:1914
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice OMIM:618512
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Clinodactyly, Unilambdoid synostosi... OMIM:618577
Arthrogryposis, Distal, Type 1C
Cryptorchidism, Short stature, Decreased body weight OMIM:619110
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Distal lower limb amyotrophy, Brachydactyly, Short stature, Prominent nasa... OMIM:300534
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... OMIM:308700
Trisomy 4P
Cryptorchidism, Hypospadias, Short stature ORPHA:1738
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal... OMIM:614105
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Orthostatic Hypotension 1
Increased blood urea nitrogen, Nasal congestion, High palate, Hypomagnesemia, Weakness of facial ... OMIM:223360
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit... OMIM:164900
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High p... ORPHA:192
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short stature, Short distal phalanx of finger, Broad nasal tip ORPHA:2776
Mmep Syndrome
Cryptorchidism ORPHA:3434
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Cupped ribs, ... OMIM:608940
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no... OMIM:170390
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Anteverted nares, Short neck, Micrognathia, Short f... ORPHA:93299
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,... OMIM:616367
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Large for gestational age, Hypoplasia of the maxilla, Mi... OMIM:213980
Intellectual Disability-Strabismus Syndrome
Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Short neck, Prominent nose... ORPHA:363528
Syndromic Recessive X-Linked Ichthyosis
Short stature, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma ORPHA:281090
Filippi Syndrome
Postnatal growth retardation, Cryptorchidism, Decreased body weight, Ambiguous genitalia, Intraut... OMIM:272440
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Hypospadias, Short stature, Intrauterine growth retardation OMIM:101805
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha... OMIM:271665
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Wide nose, Small for gestational age, Hypospadias, Anteverted nares... OMIM:257300
Microcephaly 26, Primary, Autosomal Dominant
Failure to thrive, Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia,... OMIM:619179
Mosaic Trisomy 14
Cryptorchidism, Hypoplasia of penis, Failure to thrive, Hypospadias ORPHA:1703
Desmosterolosis
Micrognathia, Pachygyria, Bifid uvula, Depressed nasal bridge, Abnormality of neuronal migration,... ORPHA:35107
Andersen-Tawil Syndrome
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... ORPHA:37553
Juberg-Hayward Syndrome
Wide nose, Severe short stature, Hypospadias, Toe syndactyly, Short thumb, Hypoplasia of the radi... ORPHA:2319
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Tetrasomy 5P
Anteverted nares, Overlapping toe, Short hallux, Short neck, Micrognathia, Postnatal growth retar... ORPHA:3309
Kallmann Syndrome With Spastic Paraplegia
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... OMIM:308750
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Sy... OMIM:146510
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Cryptorchidism ORPHA:1174
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Increased size o... ORPHA:457395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Seckel Syndrome 1
Abnormal finger flexion crease, Micrognathia, Prominent nose, High palate, Clinodactyly of the 5t... OMIM:210600
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Cerebrofacioarticular Syndrome
Syndactyly, Anal stenosis, Hypospadias, Short stature, Micrognathia, Hypoplasia of the maxilla, B... ORPHA:314679
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphys... OMIM:300863
Nabais Sa-De Vries Syndrome, Type 1
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Simplified gyral pat... OMIM:618828
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Cryptorchidism, Failure to thrive OMIM:604317
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Small for gestational age, Short stature OMIM:245570
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Camptodactyly OMIM:619751
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Short stature, Short neck, Micrognathi... ORPHA:251071
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Hyponatremia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, ... OMIM:620157
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Abnormal cortical gyration, Short stature, ... OMIM:610829
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Micrognathia, High, narrow palate, Congenital contracture, Hig... OMIM:248700
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Harel-Yoon Syndrome
Mandibular prognathia, Micrognathia, Hip dysplasia, Distal amyotrophy, Scoliosis, Short nose OMIM:617183
Carpenter Syndrome
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Po... ORPHA:65759
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, Aminoaciduria, Short ... ORPHA:99688
Graves Disease, Susceptibility To, 1
Hyperactivity, Polyphagia, Weight loss OMIM:275000
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil... ORPHA:245
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Distal Deletion 10P
Hypoplasia of penis, Short stature, Cryptorchidism, Polycystic ovaries, Intrauterine growth retar... ORPHA:1580
Intellectual Developmental Disorder, X-Linked 103
Bilateral cryptorchidism, Micropenis OMIM:300982
Trisomy 10P
Decreased muscle mass, Micrognathia, Hemivertebrae, Simplified gyral pattern, High palate, Abnorm... ORPHA:171929
Trisomy 12P
Short stature, Short neck, Micrognathia, Wide nasal bridge, Cleft palate, Abnormality of the urin... ORPHA:1699
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs ORPHA:3327
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Micrognathia, Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney dis... OMIM:608612
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Long nose, Narrow greater s... ORPHA:508533
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Elbow dislocatio... OMIM:613805
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Micropenis, Hypospadias, Death in infancy OMIM:618815
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Intellectual Disability, Wolff Type
Cryptorchidism, Hypospadias ORPHA:3080
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Clark-Baraitser Syndrome
Anteverted nares, Depressed nasal bridge, Sandal gap, Clinodactyly, Obesity, High palate, Short n... OMIM:617752
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... OMIM:609441
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... OMIM:620099
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Fi... OMIM:212720
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Hypoplasia of the maxilla, Bulbous nose, Pachygyria, Subcortical band heterotopia OMIM:618737
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... ORPHA:2470
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Au-Kline Syndrome
Vertebral segmentation defect, High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux... OMIM:616580
Body Mass Index Quantitative Trait Locus 19
Polyphagia, Obesity OMIM:617885
Chromosome 19Q13.11 Deletion Syndrome, Distal
Hypospadias, Anteverted nares, Short stature, Micrognathia, Carious teeth, Underdeveloped nasal a... OMIM:613026
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy OMIM:268650
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Brachydactyly, Anteverted nares, Cleft soft palate, Kyphoscoliosis, Micrognathia, ... OMIM:616331
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Functional abnormality of the bladder, High palate, Abn... ORPHA:2953
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of finger, Short metacarpal, ... OMIM:258480
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t... OMIM:618506
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight ORPHA:93945
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar emi... OMIM:239800
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... ORPHA:313892
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormal intervertebral disk morphology, Anteverted nares, Short stature, Carious teeth, Abnormal... ORPHA:2701
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... ORPHA:251061
8p23.1 deletion syndrome
Cryptorchidism DECIPHER:39
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... OMIM:614069
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Cryptorchidism, Hypoplastic male external genitalia OMIM:618823
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Short stature, Cachexia, Short neck, Abnormal soft p... ORPHA:884
Warburg Micro Syndrome 1
Cryptorchidism, Failure to thrive, Short stature, External genital hypoplasia OMIM:600118
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Hypospadias, Polydactyly, Intrauterine growth retardation, Short nose, Hy... OMIM:616910
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism ORPHA:2958
Omodysplasia 1
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Failure to thrive, Congenital hip dislocation, Anteverted nares, Short stature, Decreased muscle ... ORPHA:357074
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cryptorchidism, Cholestasis, Anemia, Neonatal death, Decreased ci... OMIM:608104
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... OMIM:194072
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, Short stature, External genital hypoplasia, Cryptorchidism, Neonat... OMIM:613390
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Death in infancy, Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Ambiguous gen... ORPHA:168593
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Abnormality of the lymphatic system, Short stature ORPHA:638
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Micropenis, Hypospadias, Anteverted... OMIM:301040
Hyperinsulinism Due To Hnf1A Deficiency
Agitation, Small for gestational age, Polyphagia, Large for gestational age ORPHA:324575
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short stature, Cachexia, Postaxial hand polydactyly, Short nose ORPHA:1389
Congenital Myopathy 9A
Cryptorchidism, Short stature, Obesity, Death in infancy OMIM:618822
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Short iliac bones, Metaphyseal wideni... OMIM:614376
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ... OMIM:271510
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Short stature, Fifth finger di... OMIM:257850
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Broad hallux,... ORPHA:481152
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Ohdo Syndrome
Anteverted nares, Proteinuria, Depressed nasal bridge, Micrognathia, Short stature, Wide nasal br... OMIM:249620
2Q23.1 Microdeletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... ORPHA:228402
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cryptorchidism, Disproportionate short-limb short stature, Ambiguous genital... ORPHA:2772
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Elevated circulating creatinine concentration, Growth delay, Scoliosis, ... OMIM:223900
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Short neck, Hypoplasia of the maxilla, Pachygyria,... OMIM:609460
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Adenylosuccinate Lyase Deficiency
Prominent metopic ridge, Short nose, Anteverted nares ORPHA:46
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Hyperinsulinism Due To Ucp2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276556
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... OMIM:609945
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Feingold Syndrome Type 1
Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicourete... ORPHA:391641
Donnai-Barrow Syndrome
Diaphragmatic eventration, Depressed nasal bridge, Proteinuria, Intestinal malrotation, Broad nas... OMIM:222448
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Short stature, Protruding tongue, Micrognath... OMIM:242860
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Severe short stature... ORPHA:2588
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Hemivertebrae, Flex... OMIM:224690
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Anteverted nares, Short stature, Sandal gap, Short toe, Anterior open-bite malo... OMIM:617877
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Polycystic kidney dysplasia, Short... OMIM:608776
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyphoscoliosis, Promine... ORPHA:2976
Spinal Muscular Atrophy, X-Linked 2
Cryptorchidism, Micropenis, Hypospadias OMIM:301830
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary ORPHA:314473
Geroderma Osteodysplasticum
Mandibular prognathia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Seve... OMIM:231070
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Short stature, Cryptorchidism, Thiamine-responsive megal... OMIM:249270
Prieto Syndrome
Cryptorchidism OMIM:309610
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Congenital Arthrogryposis With Anterior Horn Cell Disease
Neonatal death, Cryptorchidism OMIM:611890
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Proximal Xq28 Duplication Syndrome
Cryptorchidism, Hypospadias, Short stature ORPHA:1762
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Hypospadias, Short stature, Carious teeth, Small hand, Hypo... ORPHA:1786
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple s... ORPHA:207
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Anteverted nares, Intestinal malrotation, Short stature, Velopharyngeal insufficiency... OMIM:614701
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Antley-Bixler Syndrome
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abn... ORPHA:83
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Cryptorchidism, Failure to thrive, Intrauterine growth retardation OMIM:618958
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Isolated Hemihyperplasia
Cryptorchidism ORPHA:2128
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Prox... OMIM:217980
Raine Syndrome
Mandibular prognathia, Micrognathia, Short neck, High palate, Choanal stenosis, Neonatal death, L... OMIM:259775
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Short stature, Short neck, Bulbous nos... ORPHA:369891
9Q21.13 Microdeletion Syndrome
Wide nasal ridge, Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Gra... ORPHA:531151
Freeman-Sheldon Syndrome
Growth delay, Cryptorchidism, Failure to thrive, Short stature ORPHA:2053
Alkuraya-Kucinskas Syndrome
Anteverted nares, Depressed nasal bridge, Overlapping toe, Micrognathia, Clinodactyly, Cutaneous ... OMIM:617822
Tonne-Kalscheuer Syndrome
Hypospadias, Short stature, Shyness, Cryptorchidism, Growth delay, Micropenis, Decreased testicul... OMIM:300978
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Short stature, Sandal gap, Micrognathia, Prominent nose, Postnatal growth ... OMIM:156200
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognat... ORPHA:2166
Lig4 Syndrome
Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di... OMIM:606593
Li-Campeau Syndrome
Cryptorchidism, Micropenis, Hypothyroidism, Short stature OMIM:619189
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Brachydactyly, Tapered finger, High, narrow palate, Bulbous nose, Retrognathia, 2-... ORPHA:485405
Toluene Embryopathy
Short stature, Micrognathia, Tapered finger, Abnormal localization of kidney, Hypoplasia of the z... ORPHA:1920
3-Methylglutaconic Aciduria, Type Iv
Cryptorchidism OMIM:250951
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Intestinal malrota... ORPHA:401935
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Fin... ORPHA:193
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short stature, Microcytic anemia, Cryptorchidism, Failure to thrive, HbH hemoglobin ORPHA:98791
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Wide nose, Short stature, Elevated circulating creat... OMIM:608779
Branchial Arch Syndrome, X-Linked
Cryptorchidism, Short stature OMIM:301950
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hyp... OMIM:215140
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276575
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe po... OMIM:266810
Rhiny
Short nose, Anteverted nares OMIM:180360
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Small for gestational age, Short stature, Postnatal growth retardation... OMIM:616489
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... ORPHA:397590
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Depressed nasal bridge, Anteverted nares, Microgna... ORPHA:93329
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Kyphosis, Tapered f... ORPHA:476126
Fatty Acyl-Coa Reductase 1 Deficiency
Growth delay, Short nose, Depressed nasal bridge, Short stature ORPHA:438178
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Cryptorchidism, Death in infancy, Hepatomegaly OMIM:613730
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Short neck, Micrognathia, Tapered finger, Obesity, Narrow palate, Hypoplasia of teeth, Wide nasal... OMIM:620250
Trisomy 20P
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, F... ORPHA:261318
Hypotonia, Infantile, With Psychomotor Retardation
Cryptorchidism OMIM:616816
Donnai-Barrow Syndrome
Depressed nasal bridge, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Wid... ORPHA:2143
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Agitation, Polyphagia, Large for gestational age ORPHA:276580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Short nose, Meckel diverticulum ORPHA:163961
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm OMIM:308100
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Short stature, Malabsorption, Underd... ORPHA:2315
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Chromosome 10Q26 Deletion Syndrome
Congenital hip dislocation, Short neck, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyl... OMIM:609625
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil... ORPHA:400
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism, Short stature, Midshaft hypospadias ORPHA:2863
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Kyphosis, Bulbous nose, G... ORPHA:261144
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti... OMIM:240300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Renal malrotation, Anteverted nares, Depressed nasal bridge, Short sta... OMIM:615866
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Stt3A-Cdg
Cryptorchidism, Micropenis, Small scrotum, Failure to thrive ORPHA:370921
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, High palate, Bifid uvula, Depresse... OMIM:617140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Hydroureter, Ureteral stenosis, Anteverted nares, Depressed nasal bridge,... OMIM:615398
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, High... ORPHA:536467
Marshall-Smith Syndrome
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... ORPHA:561
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Cleft palate, ... ORPHA:79113
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Micropha... OMIM:618454
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Short stature, Elevated circulating luteinizing horm... OMIM:618419
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Depressed nasal bridge, Sandal gap, Micrognathia, Tapered finger, Kyphosis, Bul... OMIM:617061
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Perianal abscess, Cryptorchidism, Micropenis OMIM:614684
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Short stature, Cryptorchidism, Truncal obes... OMIM:300957
Shox-Related Short Stature
Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Prolidase Deficiency
Depressed nasal bridge, Eczema, Micrognathia, Hyperimidodipeptiduria, Recurrent pneumonia, Crusti... OMIM:170100
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... ORPHA:794
Distal Duplication 15Q
Cryptorchidism, Abnormality of female external genitalia, Intrauterine growth retardation ORPHA:1707
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Epiphyseal stippling, Abnormality of the vertebra... OMIM:302950
Achondrogenesis
Severe short stature, Anteverted nares, Short neck, Micrognathia, Short nose ORPHA:932
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Short stature... OMIM:203800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Short neck, Micrognathia, Tibial bowing, High palate, Clinodactyly of the 5th... ORPHA:251028
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hypospadias, Short stature, Cryptorchidism, Abdominal obesity, Hypogonadism, Delayed puberty, Mic... OMIM:300354
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Thoracolumbar scoliosis, Short... OMIM:616723
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:1381
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Robinow Syndrome, Autosomal Dominant 3
Short neck, Micrognathia, Anteriorly placed anus, Vesicoureteral reflux, Micropenis, Short phalan... OMIM:616894
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Short neck, High palate, Short palm, Micropenis, Duplication of the distal phalanx ... OMIM:180700
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Cryptorchidism, Short stature OMIM:619595
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevated circulating follic... OMIM:619938
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Intellectual Developmental Disorder, X-Linked 93
Cryptorchidism OMIM:300659
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hypop... OMIM:208500
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... OMIM:269150
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Generalized amyot... OMIM:620369
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadis... ORPHA:110
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Short stature, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebr... OMIM:109120
Chromosome 2P16.1-P15 Deletion Syndrome
Depressed nasal bridge, Short stature, Kyphoscoliosis, Arachnodactyly, Postnatal growth retardati... OMIM:612513
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnor... ORPHA:1295
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Large for gestational age, Hypoplasia of the maxilla, Micrognathia, Short ... ORPHA:96334
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Overlapping toe, Short neck, Bulbous nose, Wide nasal bridge, C... OMIM:618571
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Gomez-Lopez-Hernandez Syndrome
Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel, High palate, Wormian b... OMIM:601853
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of... ORPHA:1234
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... ORPHA:210548
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... OMIM:300219
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Chromosome 3Q13.31 Deletion Syndrome
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum OMIM:615433
Intellectual Developmental Disorder, X-Linked 106
Cryptorchidism, Hypospadias, Decreased testicular size OMIM:300997
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Cl... ORPHA:2554
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Axenfeld-Rieger Syndrome
Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:782
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Lathosterolosis
Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Anteverted nares, Promin... ORPHA:46059
Shprintzen-Goldberg Craniosynostosis Syndrome
Anteverted nares, Arachnodactyly, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metat... OMIM:182212
Fetal Alcohol Syndrome
Anteverted nares, Short stature, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Ver... ORPHA:1915
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Micropenis ORPHA:370968
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Short stature, Microcytic anemia, Cryptorchidism, Insulin-resistan... ORPHA:293967
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Depr... OMIM:614080
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short stature, Prominent nasal bridge, Micrognathia, Broad nasal tip, Postnatal growth retardatio... OMIM:300749
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Hallux valgus, Small for gestational age, Micrognathia, Prominent nose, High palate, Broad thumb,... OMIM:620194
Microcephaly 27, Primary, Autosomal Dominant
Cryptorchidism, Micropenis OMIM:619180
Nablus Mask-Like Facial Syndrome
Anteverted nares, Depressed nasal bridge, Short hallux, Short neck, Hypoplasia of the maxilla, Ta... OMIM:608156
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted ... OMIM:200600
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Kagami-Ogata Syndrome
Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla... OMIM:608149
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Growth delay, Normochromic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614857
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Lymphopenia, Hypothyroidism OMIM:617575
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Camptocormia, ... OMIM:617595
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Kleefstra Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos... ORPHA:261494
Tarp Syndrome
Meckel diverticulum, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, H... OMIM:311900
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, Knee flexio... OMIM:118650
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Failure to thrive, Polyphagia OMIM:606407
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Small scrotum ORPHA:1027
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Short stature, Micrognathia, Broad nasal tip, Broad hallux, ... OMIM:618529
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Short stature ORPHA:1387
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Short stature, Prominent nasal bridge, High palate, Prominent fingertip pads, S... OMIM:300558
Smith-Kingsmore Syndrome
Rhizomelia, Depressed nasal bridge, Diastasis recti, Large for gestational age, Short proximal ph... OMIM:616638
Aminopterin Syndrome Sine Aminopterin
Cryptorchidism, Intrauterine growth retardation, Short stature, Decreased body weight OMIM:600325
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Cryptorchidism OMIM:273390
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Fo... ORPHA:2879
Baker-Gordon Syndrome
Prominent nasal tip, Short nose, Scoliosis OMIM:618218
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism OMIM:612370
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism ORPHA:261102
Abruzzo-Erickson Syndrome
Cryptorchidism, Hypospadias, Coronal hypospadias, Short stature ORPHA:921
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Intrauterine growth retardation, Short stature, Vaginal atresia OMIM:617914
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short statu... OMIM:227330
Prune Belly Syndrome
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Failure to thrive, Decreased test... ORPHA:2970
Peho Syndrome
Tapered finger, Retrognathia, Short nose, Pachygyria, Polymicrogyria OMIM:260565
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the... ORPHA:1507
Oculodentodigital Dysplasia
Uveitis, High palate, Joint contracture of the 5th finger, Vertebral hyperostosis, Anteverted nar... OMIM:164200
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Small for gestational age, Short stature ORPHA:352490
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Hyposegmentation of neutrophil nuc... ORPHA:250999
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating creatine kinase concentration, Micrognathia, Dental malocclusion, Contractur... ORPHA:329178
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Steroid-dependent nephrotic syndrome, Urinary incontinence, Anteverted nar... OMIM:300912
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Anteverted nares, Hypospadias, Intestinal malrotation, Prominent nose, Depressed nasal ... OMIM:618316
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Anteverted nares, Depressed nasal bridge, Micrognathia, Underdeveloped nasal alae, Kyphosis, Incr... OMIM:619005
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu... OMIM:617925
Fg Syndrome 5
Anteverted nares, Hypospadias, Depressed nasal bridge, Metopic synostosis, Short nose OMIM:300581
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas... OMIM:134780
Floating-Harbor Syndrome
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, ... ORPHA:2044
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Short stature, Cryptorchidism, Growth delay, Intrauterine growth retardation, Microp... ORPHA:2872
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Imagawa-Matsumoto Syndrome
Cryptorchidism OMIM:618786
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93260
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Truncal obesity, Hypogonadism,... ORPHA:127
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Tracheomalacia, Delayed epiphyseal ossifi... OMIM:156550
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... OMIM:616113
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Increased body weight ORPHA:589905
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... ORPHA:87
Facial Paresis, Hereditary Congenital, 3
Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, High palate, Short nose OMIM:614744
20Q11.2 Microduplication Syndrome
Sacral dimple, Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Wide nasal brid... ORPHA:363659
Non-Syndromic Posterior Hypospadias
Bifid scrotum, Small for gestational age, Abnormality of the endocrine system, Cryptorchidism, Ve... ORPHA:95706
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... OMIM:611717
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Disproportion... OMIM:618618
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,... OMIM:619356
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma... ORPHA:50814
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... ORPHA:2710
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Broad metacarpals, Long hallux, Short metacarpal, Lumb... OMIM:602875
48,Xxyy Syndrome
Hypoplasia of penis, Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infert... ORPHA:10
Heme Oxygenase 1 Deficiency
Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Increased circulat... OMIM:614034
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Short stature, Cryptorchidism, Hypoplastic male external genitalia, Intrauterine growth retardati... ORPHA:502434
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Small for gestational age, Supernumerary nipple, Intrauterine growth retardation OMIM:617635
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Holoprosencephaly 7
Bilateral cleft palate, Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartil... OMIM:610828
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Robinow Syndrome
Micrognathia, Hemivertebrae, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Mult... ORPHA:97360
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,... OMIM:613870
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Hand-Foot-Genital Syndrome
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinodactyly of the 5t... OMIM:140000
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter... ORPHA:99776
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Cryptorchidi... ORPHA:251066
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... ORPHA:84064
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Saul-Wilson Syndrome
Enlarged epiphyses, Micrognathia, Short metatarsal, Irregular vertebral endplates, Overtubulated ... OMIM:618150
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Sacral dimple, Short stature, Postaxial polydactyly, Micrognathia, Delayed ... OMIM:618460
Glutamine Deficiency, Congenital
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... OMIM:610015
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Hypopl... OMIM:129400
Microform Holoprosencephaly
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, S... ORPHA:280200
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Fetal Akinesia Deformation Sequence 2
Cryptorchidism OMIM:618388
Allan-Herndon-Dudley Syndrome
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Short... ORPHA:59
Distal Xq28 Microduplication Syndrome
Short stature, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Metatarsus adductus, Recurr... ORPHA:293939
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Splenome... ORPHA:1655
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Cryptorchidism, Hypothyroidism OMIM:613970
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Cryptorchidism, Delayed puberty ORPHA:486815
15Q24 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Sh... ORPHA:94065
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypogonadism ORPHA:3409
Congenital Fibrinogen Deficiency
Micropenis, Splenic rupture, Hemorrhagic ovarian cyst, Decreased testicular size ORPHA:335
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormal mesentery morphology, Shawl scrotum ORPHA:2256
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micrognathia, Short neck, Epispadias, High, narrow palate, Hemivertebrae, Ab... ORPHA:3107
Digeorge Syndrome
Hepatic steatosis, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone... OMIM:188400
Radio-Renal Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Severe short stature, Depressed nasal bridge, Rena... ORPHA:3015
Rubinstein-Taybi Syndrome 1
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Flexion contracture... OMIM:180849
Acrocallosal Syndrome
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Micr... OMIM:200990
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Bilateral cryptorchidism, Neutropenia, Intrauterine growth reta... OMIM:616395
Skraban-Deardorff Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Recurrent otitis media, Hyp... OMIM:617616
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, H... OMIM:619383
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Joubert Syndrome 37
Hepatomegaly, Short stature, Cryptorchidism, Obesity, Micropenis, Decreased testicular size OMIM:619185
Bainbridge-Ropers Syndrome
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, High palate, C... OMIM:615485
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Decreased response to growth hormone stimulation test ORPHA:1263
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Anteverted nares, Arachnodactyly, Camptodactyly of finger, Micrognathia... ORPHA:2462
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, 2-3 toe syndactyly, Conj... OMIM:106260
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Nephropathy, Nephritis ORPHA:182050
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Anemia, Neutropenia OMIM:618067
Hereditary Bullous Dystrophy, Macular Type
Short stature, External genital hypoplasia, Cryptorchidism, Growth delay, Decreased testicular size ORPHA:1867
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Short nose ORPHA:833
Meckel Syndrome 12
Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia OMIM:616258
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Postnatal growth retardation, Wide anteri... OMIM:619135
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Primary amenorrhea, Delayed puberty... OMIM:147950
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Desbuquois Dysplasia 2
Short neck, Metaphyseal widening, Knee dislocation, Short phalanx of finger, Bifid uvula, Genu va... OMIM:615777
Uremic Pruritus
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... ORPHA:94059
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Small for gestational age, Hypospadias, Depressed nasal bridge, Short statur... OMIM:300661
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... OMIM:614736
Myhre Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,... OMIM:139210
Meier-Gorlin Syndrome 3
Microretrognathia, Hypospadias, Prominent nasal bridge, Short stature, Micrognathia, Hypoplasia o... OMIM:613803
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Short stature ORPHA:1166
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Spondylodysplastic Ehlers-Danlos Syndrome
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... ORPHA:536471
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:244200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... ORPHA:572333
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Severe short stature OMIM:210700
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... ORPHA:227990
Gapo Syndrome
Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, Delayed closure of the ante... OMIM:230740
Omodysplasia 2
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Rhizomelic arm shortening, Clitoral h... OMIM:164745
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... ORPHA:227982
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Short neck, Kyphosis, Genu valgum, Short nose, Spina bifida occulta ORPHA:2983
Opsismodysplasia
Abnormally ossified vertebrae, Severe short stature, Depressed nasal bridge, Tapered finger, Squa... ORPHA:2746
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Cryptorchidism, Small for gestational age OMIM:618484
Crouzon Syndrome
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, High pala... OMIM:123500
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Depressed nasal bridge, Anteverted nares, Short stature, Macroglossia, Severe postnatal growth re... OMIM:613038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Congenital Myopathy 19
Cryptorchidism OMIM:618578
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri... OMIM:309520
Blomstrand Lethal Chondrodysplasia
Natal tooth, Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge... ORPHA:50945
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Growth delay, Ambiguous genitalia, male... OMIM:608800
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... OMIM:609757
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Cleft palate, Shortening of all distal phalanges of the finge... OMIM:615716
Chromosome 14Q11-Q22 Deletion Syndrome
Failure to thrive, Prominent metopic ridge, Depressed nasal bridge, Proportionate short stature, ... OMIM:613457
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Anteverted nares, Short stature, Underdeveloped nasal alae, Renal c... ORPHA:2031
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of the tonsils, Short stature, Cryp... ORPHA:567
Acrocallosal Syndrome
Cryptorchidism, Hypospadias ORPHA:36
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... OMIM:612394
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... OMIM:274150
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis, Short neck, Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal b... OMIM:615803
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Lobulated tongue, Clinodactyly of t... OMIM:613443
Non-Distal Duplication 13Q
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, High palate, Short nose ORPHA:1702
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Depressed nasal bridge, Short stature, Hypoplasia of the zygomatic bone, Malar flattening, Short ... ORPHA:2835
Weaver Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:3447
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... OMIM:211380
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft pal... OMIM:614749
Trisomy 18
Microretrognathia, Short stature, Choanal atresia, Cachexia, Camptodactyly of finger, Congenital ... ORPHA:3380
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Micropenis, Hypospadias OMIM:618840
Microlissencephaly-Micromelia Syndrome
11 pairs of ribs, Short neck, Fetal pyelectasis, Lissencephaly, Short nose, Failure to thrive, Ad... ORPHA:50810
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate short stature, Hypopla... OMIM:277600
Bartsocas-Papas Syndrome 1
Ectopic kidney, Hypoplasia of the maxilla, Short neck, Micrognathia, Flexion contracture, Hypopla... OMIM:263650
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short neck, Rectal prolapse, Short metatarsal, High palate, Short metacarpal, Anteverted nares, D... OMIM:617157
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Flexion contracture, Scoliosis, Short nose, Failure to th... OMIM:615851
Distal Monosomy 7Q36
Cryptorchidism, Hypoplasia of penis, Short stature ORPHA:1636
Ruvalcaba Syndrome
Cryptorchidism, Short stature, Delayed puberty OMIM:180870
Intellectual Developmental Disorder, Autosomal Dominant 51
Cryptorchidism, Failure to thrive, Unilateral cryptorchidism OMIM:617788
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact... OMIM:210720
King-Denborough Syndrome
Bilateral cryptorchidism, Cryptorchidism, Failure to thrive, Short stature OMIM:619542
Fg Syndrome 3
Cryptorchidism, Death in infancy OMIM:300406
Recessive X-Linked Ichthyosis
Cryptorchidism ORPHA:461
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... OMIM:619518
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Toe syndactyly, Anteverted nares, Short stature, Proximal placement of thumb, ... ORPHA:261211
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Cryptorchidism, Growth delay, Delayed puberty, Intraute... OMIM:616817
Noonan Syndrome 6
Growth delay, Cryptorchidism, Juvenile myelomonocytic leukemia, Short stature OMIM:613224
Acrofacial Dysostosis, Cincinnati Type
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bo... OMIM:616462
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Tapered finger, Flexion contracture, Hip dysplasia, Finger joint hypermobili... ORPHA:544503
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Death in infancy, Hypospadias, Cryptorchidism, Growth delay, Intrauterine growth re... ORPHA:1194
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal ... ORPHA:73230
Dysosteosclerosis
Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie... OMIM:224300
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Severe short stature ORPHA:2617
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Anteverted nares, Short stature, Kyphoscoliosis, Broad nasal tip, Hypoplas... OMIM:617402
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertili... ORPHA:96263
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... ORPHA:391474
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Short stature, Micrognathia, Carious... ORPHA:96097
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Short stature, Cryptorchidism, Hypothyroidism ORPHA:85321
Meier-Gorlin Syndrome 6
Microretrognathia, Severe short stature, Small for gestational age, Anteverted nares, Depressed n... OMIM:616835
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Abnormal cortical gyration, Rocker bottom foot, Microgna... ORPHA:521426
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Cryptorchidism ORPHA:178148
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ... ORPHA:79240
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:241530
Prader-Willi Syndrome Due To Translocation
Micrognathia, Short neck, Prominent nose, High palate, Clinodactyly of the 5th finger, Bifid uvul... ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Short stature OMIM:615502
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Postaxial polydactyly, Elev... OMIM:302960
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morphology, Flexion ... ORPHA:666
Coffin-Siris Syndrome
Delayed eruption of teeth, Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip... ORPHA:1465
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Hypospadias, Proportionate short stature, Cryptorchidism, Intrauterine growth retar... OMIM:620331
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Neutropenia OMIM:620012
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Shyness, Cryptorchidism, Azoospermia, Hypogona... ORPHA:96264
Rauch-Steindl Syndrome
Sacral dimple, Depressed nasal bridge, Short stature, Micrognathia, Postnatal growth retardation,... OMIM:619695
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... ORPHA:93552
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Hypothyroidism OMIM:618440
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Alg9-Cdg
Villous atrophy, Micrognathia, Short neck, Narrow greater sciatic notch, Bifid uvula, Microretrog... ORPHA:79328
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Short neck, Fetal pyelectasis, Nephrocalcin... ORPHA:264450
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism OMIM:619908
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irreg... ORPHA:264580
Bresek Syndrome
Cryptorchidism, Growth delay, Neonatal death, Intrauterine growth retardation, Decreased testicul... ORPHA:85284
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Renal hypoplasia, Metopic synostosis, Vesicoureteral reflux, Short nose, Failur... OMIM:613735
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept... OMIM:303600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Proteinuria, Depressed nasal bridge, Short stature, Micrognathia, Sagittal craniosyn... OMIM:616901
Branchioskeletogenital Syndrome
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Anteriorly pl... ORPHA:1299
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocyto... OMIM:603467
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasi... ORPHA:364577
3Q29 Microdeletion Syndrome
Hypospadias, Prominent nasal bridge, Tapered finger, Horseshoe kidney, High palate, Six lumbar ve... ORPHA:65286
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia OMIM:601809
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Depressed nasal bridge, Wide nasal bridge OMIM:167730
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Severe short stature, Hypospadias, Decreased response to growth hormone stimulation test, Bilater... OMIM:618336
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Kyphosis, Lo... OMIM:617527
Sanjad-Sakati Syndrome
Hypoplasia of penis, Intestinal obstruction, Depressed nasal bridge, Abnormal dental enamel morph... ORPHA:2323
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Short ... OMIM:227650
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Hypoplasia of penis, Cryptorchidism, Ambiguous genitalia, Exocrine pancreatic i... ORPHA:452
Wiedemann-Steiner Syndrome
Aplasia/Hypoplasia of the ribs, Sacral dimple, Failure to thrive, Short stature, Rhizomelia, Tape... ORPHA:319182
Monosomy 9P
Hypospadias, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Choanal atresia,... ORPHA:261112
C Syndrome
Joint dislocation, Congenital diaphragmatic hernia, Short neck, Micrognathia, High palate, Clinod... ORPHA:1308
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short ... OMIM:616420
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Cryptorchidism, Death in childhood OMIM:620316
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Short stature, Sagittal craniosynostosis, Micrognathia, Abnormality of th... ORPHA:459061
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con... ORPHA:373
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr... OMIM:613990
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Microphthalmia, Syndromic 8
Cryptorchidism OMIM:601349
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia,... ORPHA:99772
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio... OMIM:259420
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Aganglionic megacolon, Broad nasal tip, Tapered finger, Short toe, Abnorma... OMIM:239300
Short Stature-Micrognathia Syndrome
Small scrotum, Short stature, Rhizomelia, Cryptorchidism, Decreased body weight, Intrauterine gro... OMIM:617164
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Nephritis OMIM:274240
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Biliary tract abnormality, Abnormality of the ... OMIM:209900
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Myopathy, Hydronephrosis OMIM:278300
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Cerebrofaciothoracic Dysplasia
Wide nose, Short stature, Short neck, Hemivertebrae, Rib fusion, Cleft palate, Vertebral segmenta... ORPHA:1394
Poikiloderma With Neutropenia
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Short stature, Microg... OMIM:604173
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Schinzel-Giedion Syndrome
Micrognathia, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Choanal... ORPHA:798
German Syndrome
Ambiguous genitalia, Cryptorchidism, Short stature ORPHA:2077
Tetrasomy 18P
Short nose, Abnormality of neuronal migration, Scoliosis ORPHA:3307
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Abnormality of t... OMIM:263750
Seizures-Scoliosis-Macrocephaly Syndrome
Cryptorchidism ORPHA:466926
Nicolaides-Baraitser Syndrome
Cryptorchidism, Severe short stature, Abnormal testis morphology ORPHA:3051
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Cryptorchidism OMIM:619797
Down Syndrome
Aganglionic megacolon, Depressed nasal bridge, Sandal gap, Protruding tongue, Short neck, Renal h... ORPHA:870
Hypomandibular Faciocranial Dysostosis
Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening, Coronal cr... OMIM:241310
Lathosterolosis
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... OMIM:607330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:604292
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab... ORPHA:2791
Meier-Gorlin Syndrome 4
Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Birth ... OMIM:613804
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Hyperplasia of the maxilla OMIM:618587
Lethal Congenital Contracture Syndrome 10
Intrauterine growth retardation, Hypoplasia of the thymus OMIM:617022
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Hypospadias, Prominent nasal bridge, Long nose, Postnatal growth retardation, C... OMIM:619184
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Obesity OMIM:609734
X-Linked Intellectual Disability, Seemanova Type
Small for gestational age, Cryptorchidism, Hypogonadism ORPHA:85323
Man1B1-Cdg
Truncal obesity, Polyphagia ORPHA:397941
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus OMIM:617666
Warburg Micro Syndrome 4
Small scrotum, Short stature, Cryptorchidism, Severe postnatal growth retardation, Micropenis, De... OMIM:615663
Cardiofaciocutaneous Syndrome 1
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Short stature,... OMIM:115150
Mietens Syndrome
Hypoplasia of the ulna, Wide nose, Severe short stature, Coxa valga, Metatarsus adductus, Avascul... ORPHA:2557
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne... ORPHA:2552
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia... ORPHA:59315
X-Linked Intellectual Disability, Pai Type
Hydrocele testis, Cryptorchidism, Intrauterine growth retardation ORPHA:85322
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Increased body weight, Clitoral hypoplasia, Micropeni... ORPHA:398069
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... ORPHA:93259
Seckel Syndrome 5
Cryptorchidism, Short stature, Hypospadias, Clitoral hypertrophy OMIM:613823
Warburg Micro Syndrome 2
Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Postnatal growth retardatio... OMIM:614225
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Long hallux, Broad columella, Abno... ORPHA:2308
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cryptorchidism OMIM:618917
Luscan-Lumish Syndrome
Polyphagia, Obesity, Short stature, Aggressive behavior OMIM:616831
Osteoglosphonic Dysplasia
Cryptorchidism, Rhizomelia, Severe short stature, Failure to thrive in infancy ORPHA:2645
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Short stature, Micrognathia, Proximal placement of thumb, Esop... OMIM:610536
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Xerostomia, Nephrotic syndrome, K... ORPHA:238468
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Micropenis OMIM:613156
Distal Deletion 9P
Hypospadias, Short neck, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, Brachy... ORPHA:1642
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Cornelia De Lange Syndrome 1
Proximal placement of thumb, Ectopic kidney, Micrognathia, Short neck, High, narrow palate, Conge... OMIM:122470
Recombinant Chromosome 8 Syndrome
Growth delay, Cryptorchidism, Postnatal growth retardation OMIM:179613
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Persistent open anterior fontanelle, Arachnodactyly, Facial hypotonia, High palate, Camptodactyly... OMIM:615539
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth r... ORPHA:453533
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge OMIM:601499
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Bilateral cryptorchidism, Short stature ORPHA:314575
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Clinodactyly, Short nose, Limb hypertonia OMIM:618087
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Rahman Syndrome
Cryptorchidism OMIM:617537
Oculocerebrocutaneous Syndrome
Cryptorchidism OMIM:164180
13Q12.3 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Intrauterine growth retardation, Failure to thrive ORPHA:412035
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Cryptorchidism, Failure to thrive ORPHA:88639
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Chromosome 18P Deletion Syndrome
Small for gestational age, Short stature, Cryptorchidism, Gonadal dysgenesis, Micropenis, Decreas... OMIM:146390
Orofaciodigital Syndrome Type 4
Joint dislocation, Micrognathia, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia o... ORPHA:2753
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Cryptorch... OMIM:600901
Diabetic Embryopathy
Cryptorchidism, Micropenis, Abnormal morphology of female internal genitalia, Abnormality of the ... ORPHA:1926
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intraut... ORPHA:217346
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Short neck, Short stature... ORPHA:1340
Kabuki Syndrome 2
Natal tooth, Short stature, Micrognathia, Broad nasal tip, Postnatal growth retardation, Dental m... OMIM:300867
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Short stature, Cachex... ORPHA:109
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Obesity ORPHA:464288
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Cleft... ORPHA:1812
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Short stature, Proportionate shor... OMIM:608328
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... OMIM:300009
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Obesity, Scoliosis, Clinodactyl... OMIM:618430
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Heart-Hand Syndrome Type 2
Cryptorchidism ORPHA:1350
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Waardenburg Syndrome Type 1
Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft... ORPHA:894
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Adrenal hypoplasia, Growth delay, Hypoplasia of the thymus, D... OMIM:613177
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Cryptorch... OMIM:227645
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis OMIM:618504
Linear Skin Defects With Multiple Congenital Anomalies 2
Sandal gap, Short nose, Short stature, Congenital diaphragmatic hernia OMIM:300887
Cerebrooculofacioskeletal Syndrome 1
Cryptorchidism, Failure to thrive, Small for gestational age, Death in childhood OMIM:214150
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Congenital diaphragmatic he... OMIM:614437
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Micrognathia, Recurrent pneumo... ORPHA:314655
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Cholestasis, Ovar... OMIM:246200
Spinocerebellar Ataxia-Dysmorphism Syndrome
Anteverted nares, Short stature, Genu recurvatum, Slender long bone, Cubitus valgus, Short nose, ... ORPHA:1185
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Aplasia of... OMIM:102700
Tarp Syndrome
Finger syndactyly, Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Wid... ORPHA:2886
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Rhinitis, Increas... ORPHA:230
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Anteverted nares, Ovoid vertebral bodies, Intestinal malrotation, Mic... OMIM:244450
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed ton... OMIM:615108
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Recurrent upper respiratory tract infections, Nep... OMIM:217090
Zellweger Syndrome
Hepatomegaly, Death in infancy, Hypospadias, Short stature, Cryptorchidism, Jaundice, Primary adr... ORPHA:912
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Sagittal cran... OMIM:145420
Tatton-Brown-Rahman Syndrome
Proportionate short stature, Cryptorchidism, Obesity, Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Abnormal response to corticotropin releasing... ORPHA:189427
Chops Syndrome
Anteverted nares, Short stature, High, narrow palate, Obesity, Horseshoe kidney, Aspiration pneum... OMIM:616368
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Anteverted nares, Tapered finger, Obesity, Short nose, Long hallux OMIM:619854
Filippi Syndrome
Severe short stature, Short stature, Supernumerary nipple, Cryptorchidism, Growth delay, Intraute... ORPHA:3255
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, Elevated cir... OMIM:242900
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose OMIM:617802
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Culler-Jones Syndrome
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cryptorchidism, Microp... OMIM:615849
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Small scrotum, Hypogonadism, Intrauterine growth retardation ORPHA:228390
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... OMIM:210900
Kleefstra Syndrome Due To 9Q34 Microdeletion
Renal insufficiency, Hypoplasia of penis, Anteverted nares, Protruding tongue, Obesity, Growth de... ORPHA:96147
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Hypoplasia of the abdominal wall muscul... OMIM:612289
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Short stature, Intrauterine growth retardation ORPHA:1912
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Cleft soft palate, Anteverted nares, Short neck, Micrognathia, Short stature, Wide n... ORPHA:2282
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Cryptorchidism, Growth delay, Anemia OMIM:613951
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Hyperplasia of the maxilla OMIM:613671
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Short stature, Cryptorchidism, Death in childhood, Micropenis OMIM:619847
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... OMIM:117650
Cole-Carpenter Syndrome 2
Microretrognathia, Wide cranial sutures, Short stature, Postnatal growth retardation, Kyphosis, T... OMIM:616294
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Congenital hip dislocation, Pyloric stenosis, Wide anterior font... ORPHA:457279
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Failure to thrive, Intrauterine growth retardation OMIM:615824
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Sho... ORPHA:249
Deeah Syndrome
Cervical hemivertebrae, Overlapping fingers, Short stature, Short neck, Malabsorption, Narrow pal... OMIM:619004
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Meacham Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormality of the spleen, Hydrometrocolpos, Abnormal fallop... ORPHA:3097
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Small for gestational age, Short stature, Micrognathia, Rhizomelia, Crani... OMIM:614114
Qazi-Markouizos Syndrome
Cryptorchidism ORPHA:3010
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Pancreatic steatosis, Crypt... OMIM:617052
Toriello-Carey Syndrome
Aganglionic megacolon, Short stature, Short neck, Micrognathia, Postnatal growth retardation, Cli... ORPHA:3338
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hypospadias, Short stature OMIM:218350
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short neck, Hypertrophy of the urinary bladder, High palate, Recurrent aspiration pneumonia, Micr... ORPHA:280633
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Hypospadias OMIM:175700
Noonan Syndrome 8
Cryptorchidism, Failure to thrive, Short stature, Large for gestational age OMIM:615355
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Irregu... ORPHA:289157
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Hypospadias, Short stature, Cryptorchidism, Leukopenia, ... OMIM:301056
Cornelia De Lange Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Congenital diaphragma... ORPHA:199
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Cryptorchidism, Truncal obesity, Disproportionate short-limb sh... OMIM:616541
Secondary Short Bowel Syndrome
Growth delay, Failure to thrive, Polyphagia, Weight loss ORPHA:95427
Jacobsen Syndrome
Hypospadias, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Pyloric stenosis... OMIM:147791
Genitopalatocardiac Syndrome
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphology, Abnormali... ORPHA:2075
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Short nose OMIM:300143
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... OMIM:309801
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Finger syndactyly, Renal insufficiency, Anteverted nares, Depressed nasal ... OMIM:181270
Angelman Syndrome
Hyperactivity, Aggressive behavior, Tongue thrusting, Obesity, Self-injurious behavior, Inappropr... ORPHA:72
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism ORPHA:404451
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Intrauterine g... OMIM:236680
Orofaciodigital Syndrome Iii
Kyphosis, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, Tongue nodules, Postaxia... OMIM:258850
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Cryptorchidism, Hypoplasia of penis, Short stature ORPHA:3082
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short stature, Cryptorchidism, Decreased body weight, Intrauterine growth retardation, Failure to... OMIM:617452
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes... ORPHA:436252
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome
Cryptorchidism, Small scrotum ORPHA:1970
Insulinoma
Polyphagia, Increased body weight ORPHA:97279
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Cryptorchidism, Hypospadias ORPHA:435938
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Furrowed ton... OMIM:615109
Tyshchenko Syndrome
Cryptorchidism, Short stature, Supernumerary nipple, Intrauterine growth retardation OMIM:615102
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypochromic micr... ORPHA:66634
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Overhanging nasal tip, Postaxial polydactyly, Genu valgum OMIM:619142
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia,... ORPHA:3138
Scarf Syndrome
Diastasis recti, Craniosynostosis, Short neck, Wide nasal base, Abnormal form of the vertebral bo... ORPHA:3134
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Obesity, Macroglossia, Scoli... OMIM:105830
Obesity Due To Congenital Leptin Deficiency
Polyphagia, Obesity ORPHA:66628
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Flexion contracture of finger, Depressed nasal bridge, Anteverted nares, Overlapping to... ORPHA:254528
Igg4-Related Pachymeningitis
Low back pain, Sinusitis, Lower limb muscle weakness, Elevated circulating C-reactive protein con... ORPHA:449427
Pediatric-Onset Graves Disease
Hyperactivity, Intrauterine growth retardation, Polydipsia, Failure to thrive, Polyphagia ORPHA:525731
Eec Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypospadias, Hypoplasia of ... ORPHA:1896
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Cryptorchidism, Short stature, Testicular torsion ORPHA:75496
Triploidy
Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abno... ORPHA:3376
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth delay, Uterine leiomyoma... ORPHA:1439
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia OMIM:617746
Ogden Syndrome
Congenital hip dislocation, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger... OMIM:300855
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Decreased muscle mass, Narrow joint spaces of the elbow, Small for gestational age, H... ORPHA:96182
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Renal Hypoplasia, Bilateral
Short stature, Small for gestational age, Cryptorchidism, Growth delay, Failure to thrive, Anemia ORPHA:97362
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... ORPHA:306542
Kbg Syndrome
Cryptorchidism, Short stature ORPHA:2332
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Diabetes mellitus, Cryptorchidism, Male hypogonadism, Hepatic steatosis OMIM:615381
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Eunuchoid habitus, Wide nose, Cleft ala nasi, Narrow nasal base, Pelvic gi... ORPHA:3044
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va... OMIM:273395
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Penile freckling, Large for gestational age, Obesity, High palate, Recurr... OMIM:605309
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Cryptorchidism, Failure to thrive, Intrauterine growth retardation OMIM:612938
Rin2 Syndrome
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism ORPHA:217335
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... OMIM:615830
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Miscarriage, Large for gestational age ORPHA:169189
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... ORPHA:1790
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Cleft palate, Joint contrac... OMIM:602398
Snijders Blok-Fisher Syndrome
Cryptorchidism OMIM:618604
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia, Obesity ORPHA:179494
Aymé-Gripp Syndrome
Prominent metopic ridge, Pericarditis, Depressed nasal bridge, Proteinuria, Short stature, Tapere... ORPHA:1272
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Intrauterine growth retardation OMIM:611812
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreati... OMIM:235255
Cog5-Cdg
Hepatomegaly, Short stature, Cryptorchidism, Hepatosplenomegaly, Intrauterine growth retardation,... ORPHA:263487
Harrod Syndrome
Cryptorchidism, Failure to thrive, Hypospadias, Intrauterine growth retardation ORPHA:2115
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... OMIM:252150
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Short stature, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchid... ORPHA:3157
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Micropenis, Hypospadias, Cleft soft palate, Short stature, Tapered finger, Supernumerary tooth, S... ORPHA:268261
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Micrognathia, Flexion contracture, High palate, Micropenis, Hypospadias,... OMIM:309590
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Enuresis nocturna, Short 4th toe, Advanced eruption of teeth, Prominent fing... OMIM:615873
Martin-Probst Syndrome
Bifid scrotum, Pancytopenia, Short stature, Cryptorchidism, Chordee, Hypoplastic nipples, Micrope... OMIM:300519
Peters-Plus Syndrome
Ureteral duplication, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:261540
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation... OMIM:268400
White-Kernohan Syndrome
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Horses... OMIM:619426
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Clinodactyly, ... OMIM:613406
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Abnormality of the parathyroid gland ORPHA:3429
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Small for gestational age, Short stature ORPHA:289266
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Cryptorchidism, Hypospadias, Short stature OMIM:300004
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Anteverted nares, Epispadias, Abno... ORPHA:3339
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... OMIM:186500
Scarf Syndrome
Prominent nasal bridge, Diastasis recti, Short neck, Wide nasal bridge, Abnormal form of the vert... OMIM:312830
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Bifid uvula, Lumbar hyperlord... ORPHA:500150
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Short stature, Cryptorchidism, Decreased body weight, Intrauterine growth retardation, Failure to... ORPHA:505237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:129900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Blepharonasofacial Malformation Syndrome
Cryptorchidism ORPHA:1252
Trisomy 13
Displacement of the urethral meatus, Intrauterine growth retardation, Abnormal morphology of fema... ORPHA:3378
Ring Chromosome 7 Syndrome
Mandibular prognathia, Hypospadias, Anteverted nares, Prominent nasal bridge, Short stature, Slen... ORPHA:1449
Insulin-Resistance Syndrome Type B
Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Abnormal circulating fatty-acid co... ORPHA:2298
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect... OMIM:312870
Monosomy 9Q22.3
Delayed eruption of teeth, Nephroblastoma, Rhabdomyosarcoma, Short neck, Large for gestational ag... ORPHA:77301
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Clinodactyly of the 5th finger ORPHA:228396
Cri-Du-Chat Syndrome
Small for gestational age, Hypospadias, Cryptorchidism, Growth delay, Overfriendliness OMIM:123450
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Short stature, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morpholo... ORPHA:90154
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Long nose, High palate, Clinodactyly of the 5th finger,... OMIM:619522
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th... ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, Hypothyroidism OMIM:617796
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retardation, Abnormal morphology ... ORPHA:2311
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, C... ORPHA:1791
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia ORPHA:1129
Cadds
Cholangitis, Micrognathia, Increased circulating very long-chain fatty acid concentration, Intrau... ORPHA:369942
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas... ORPHA:2399
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... ORPHA:3103
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism OMIM:618060
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Momo Syndrome
Delayed eruption of teeth, Short neck, Dental malocclusion, Obesity, Wide nasal bridge, Taurodont... OMIM:157980
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Long nose, Slender long bone, High palate, Scoliosis, Malar flattening, S... OMIM:618590
Nicolaides-Baraitser Syndrome
Enlarged joints, High, narrow palate, Short metatarsal, Prominent interphalangeal joints, Short p... OMIM:601358
Molybdenum Cofactor Deficiency, Complementation Group B
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela... OMIM:252160
Vacterl/Vater Association
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Abn... ORPHA:887
Gorlin Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism ORPHA:377
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Long penis, Hypoplasia of ... OMIM:264090
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Megaloblastic anemia OMIM:300322
Rere-Related Neurodevelopmental Syndrome
Postnatal growth retardation, Cryptorchidism, Hypospadias, Intrauterine growth retardation ORPHA:494344
Multifocal Atrial Tachycardia
Cryptorchidism, Hypothyroidism ORPHA:3282
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cryptorchidism ORPHA:1145
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Wide anterior fontane... ORPHA:90349
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Chromosome 16P13.3 Duplication Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Bifid uvula, Anteverted nares, Depressed n... OMIM:613458
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Bulbous nose, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Po... ORPHA:2752
Noonan Syndrome 5
Cryptorchidism, Short stature, Large for gestational age OMIM:611553
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Cryptorchidism, Severe short stature, Disproportionate short-limb short stature OMIM:224410
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples OMIM:616001
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hypospadias, Anteverted nares, Short stature, Micrognathia, Small hand, Obesity, H... ORPHA:444077
Immunodeficiency 17
Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly... OMIM:615607
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Mild short stature, Bulbous nose, Wide nasal bridge, Short nose OMIM:620292
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Cryptorchidism, Small scrotum, Intrauterine growth retardation ORPHA:2728
Urofacial Syndrome 1
Cryptorchidism OMIM:236730
Arthrogryposis, Distal, Type 1A
Cryptorchidism, Short stature OMIM:108120
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Short stature, Cryptorchidism, Abnormality of the scrotum ORPHA:2505
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Short stature, Hyperextensibility of ... OMIM:130000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed early-childhood social milestone development, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99413
Mosaic Monosomy X
Delayed early-childhood social milestone development, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99228
Monosomy X
Delayed early-childhood social milestone development, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:99226
Turner Syndrome
Delayed early-childhood social milestone development, Hepatic fibrosis, Hepatic steatosis, Hashim... ORPHA:881
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia OMIM:314300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, Wide nasal bridge, Cleft pa... OMIM:614207
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Adrenal hypoplasia, Malformation of the hepatic du... OMIM:249000
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Cutis Laxa, Autosomal Recessive, Type Iiia
Cryptorchidism, Failure to thrive, Short stature, Intrauterine growth retardation OMIM:219150
Van Esch-O'Driscoll Syndrome
Sacral dimple, Depressed nasal bridge, Short stature, Esophageal atresia, Spina bifida occulta, T... OMIM:301030
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Cryptorchidism, Micropenis, Leukemia, Supernumerary nipple OMIM:619951
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cleft palate, Growth delay, Finger cl... OMIM:601353
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Depressed nasal bridge, Advanced eruption of teeth, Short nose, Failure to thrive, Broad columella OMIM:617865
Degcags Syndrome
Micrognathia, Prominent nose, Bilateral renal hypoplasia, High palate, Diaphragmatic eventration,... OMIM:619488
Noonan Syndrome 4
Cryptorchidism, Short stature, Thrombocytopenia, Large for gestational age OMIM:610733
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Cleft soft palate, Intestinal malrotation, Flexion contracture, Renal hypoplasia, ... OMIM:619321
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Slender build, Short stature ORPHA:364028
Noonan Syndrome 9
Cryptorchidism, Short stature OMIM:616559
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1, Short stature ORPHA:314389
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose OMIM:122880
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cryptorchidism, Shawl scrotum ORPHA:1778
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Short stature, Proximal placement of thumb, Long nose, Postnatal growth retardation, Bulbous nose... OMIM:620113
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Hypoplasia of penis, Ambiguous genitalia, Short stature, Abnormal hemoglobin, C... ORPHA:847
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Small for gestational age, Hypospadias, Cryptorchidism, Growth delay, Death in childhood, Neonata... OMIM:614052
Meckel Syndrome
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Ma... ORPHA:564
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Gorlin-Chaudhry-Moss Syndrome
Short stature, Hypoplasia of the maxilla, Coronal craniosynostosis, Abnormal metacarpal morpholog... ORPHA:2095
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth ... ORPHA:254346
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Intestinal obstruction, Nasal polypo... ORPHA:183
Momo Syndrome
Delayed eruption of teeth, Short stature, Large for gestational age, Short neck, Dental malocclus... ORPHA:2563
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Absent Eyebrows And Eyelashes With Mental Retardation
Short nose, Convex nasal ridge OMIM:200130
Hydrolethalus
Cryptorchidism, Abnormal fallopian tube morphology ORPHA:2189
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Micropenis, Small scrotum, Severe postnatal growth retardation ORPHA:98905
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... OMIM:101400
Webb-Dattani Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:615926
Pallister-Hall Syndrome
Ectopic kidney, Large for gestational age, Hemivertebrae, Depressed nasal ridge, Micropenis, Bifi... ORPHA:672
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Depressed nasal bridge, Anteverted nares, Short stature, Wide nasal bridge, Aspiratio... OMIM:616430
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism ORPHA:1338
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Flexion contra... ORPHA:505248
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short stature, Cryptorchidism, Growth delay, Polysplenia, Intrauterine growth ... OMIM:614294
Diamond-Blackfan Anemia 8
Growth delay, Short nose, Short stature, Wide nasal bridge OMIM:612563
Dyskeratosis Congenita
Coarse metaphyseal trabecularization, Esophageal stenosis, Short stature, Malabsorption, Hypoplas... ORPHA:1775
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microretrognathia, Joint dislocation, Arachnodactyly, Intestinal malrotation, Diastasis recti, Hi... OMIM:601776
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Sacral dimple, Aganglionic megacolon, Tapered finger, W... OMIM:613603
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Short nose OMIM:611936
Hardikar Syndrome
Cholangitis, Vesicoureteral reflux, Bladder exstrophy, Short stature, Thoracolumbar scoliosis, Cl... OMIM:301068
Cranioectodermal Dysplasia 1
High, narrow palate, Tubulointerstitial nephritis, High palate, Hypocalcemia, Anteverted nares, R... OMIM:218330
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Intrauterine growth retardation, Cryptorchidism ORPHA:90322
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism, Rhizo-meso-acromelic limb shortening, Short stature ORPHA:163654
5Q14.3 Microdeletion Syndrome
Short nose, Toe syndactyly, Anteverted nares ORPHA:228384
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism OMIM:616789
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
19P13.13 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Sandal gap, Long fingers, Clinodactyly, Macroglossia, H... ORPHA:357001
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Intrauterine growth retardation, Short stature, Congenital hypothyroidism OMIM:617930
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature ORPHA:3004
Ulbright-Hodes Syndrome
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... ORPHA:3404
Adnp Syndrome
Inguinal hernia, Short stature, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, ... ORPHA:404448
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Cryptorch... OMIM:227646
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:608594
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Camptodactyly of finger, Abnormality of ... ORPHA:261236
Aspartylglucosaminuria
Mandibular prognathia, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption, Cariou... ORPHA:93
Aniridia-Absent Patella Syndrome
Cryptorchidism ORPHA:1069
Gaucher Disease, Perinatal Lethal
Anteverted nares, Depressed nasal bridge, Micrognathia, Decreased body weight, Neonatal death, In... OMIM:608013
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Hyperactivity, Short stature, Congenital diaphragmatic hernia, Ag... ORPHA:96121
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... OMIM:620005
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephr... OMIM:616629
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micrognathia, Choanal stenosis, Micropenis, Arachnodactyly, Wide nasal bridge, Fused cervical ver... ORPHA:83617
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Intrauterine growth retardation ORPHA:73246
Ellis Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Abnormal morphology of female internal genitalia, Acute ... ORPHA:289
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Hypoplasia of teeth, Growth delay, Keratoconjunctivitis sicca, Short nose, Retr... OMIM:234050
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Death in childhood OMIM:619685
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Large for gestational age ORPHA:457485
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Death in infancy, Hypospadias, Small for gestation... OMIM:614866
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wri... OMIM:268300
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Flexion contract... OMIM:601675
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Bachmann-Bupp Syndrome
Cryptorchidism, Large for gestational age OMIM:619075
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Short stature, Micropenis OMIM:610125
Noonan Syndrome 14
Cryptorchidism, Lymphopenia, Short stature OMIM:619745
Lead Poisoning
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, Sk... ORPHA:330015
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Pterygium Colli, Isolated
Short nose OMIM:177990
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, High palate, Chronic otitis media... OMIM:614188
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Ambiguous genitalia, Micropenis OMIM:617159
Al-Raqad Syndrome
Short nose, Sandal gap, Brachydactyly OMIM:616459
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Abdominal obesity OMIM:301039
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Mild postnatal growth retardation, Micrognathia, Promin... OMIM:150230
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathia, Postnatal... ORPHA:263508
Arterial Tortuosity Syndrome
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Hiatus hernia, Coxa valga, Abnormal zygomat... ORPHA:3342
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Zygomycosis
Renal insufficiency, Sinusitis, Gastritis, Epistaxis, Fasciitis, Pericarditis, Pustule, Myocardit... ORPHA:73263
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephrotic syndrome, Malar rash, Nephritis OMIM:603909
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Cryptorchidism, Micropenis, Small scrotum, Microphallus OMIM:300486
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Overweight, Cryptorchidism, Hypogonadism, Micropenis, Failure to thrive ORPHA:500055
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Short stature, Postnatal growth retardation, Splenomegaly, Cryp... OMIM:613563
Distal Duplication 17Q
Accessory spleen, Severe short stature, Rhizomelia, Short stature, Cryptorchidism ORPHA:3379
Williams Syndrome
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Rectal pro... ORPHA:904
Dominant Beta-Thalassemia
Bowing of the long bones, Depressed nasal bridge, Failure to thrive in infancy, Hypoplasia of the... ORPHA:231226
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Jaundice OMIM:608093
Kapur-Toriello Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Intrauterine growth retardation OMIM:244300
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... OMIM:602088
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia OMIM:256600
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... OMIM:309000
Fetal Akinesia Deformation Sequence
Cryptorchidism, Intrauterine growth retardation ORPHA:994
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cerebrooculonasal Syndrome
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Postnatal growth reta... OMIM:605627
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Short nose ORPHA:284169
Myopathy, Centronuclear, X-Linked
Cryptorchidism OMIM:310400
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Iron deficien... OMIM:175200
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Congenital d... OMIM:301044
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms, Asplenia OMIM:244400
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Severe failure to thrive, Cryptorchidism ORPHA:3304
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Growth delay, Cryptorchidism, Hypoplasia of penis, Hypospadias ORPHA:77298
Prune Belly Syndrome
Cryptorchidism OMIM:100100
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Hypospadias, Jejunal atresia, Kyphoscoliosis, Micrognathia... OMIM:618820
Monosomy 22
Micropenis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Kallmann Syndrome-Heart Disease Syndrome
Hypogonadotropic hypogonadism, Short stature, Bilateral cryptorchidism, Growth delay, Delayed pub... ORPHA:2326
Faciocardiomelic Syndrome
Anteverted nares, Depressed nasal bridge, Large for gestational age, Micrognathia, Cuboid-shaped ... OMIM:612731
17Q12 Microdeletion Syndrome
Diabetes mellitus, Short stature, Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Vater/Vacterl Association
Abnormal nasopharynx morphology, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalang... OMIM:192350
3Mc Syndrome 3
Bifid scrotum, Short stature, Cryptorchidism, Growth delay, Micropenis, Penoscrotal hypospadias OMIM:248340
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Craniosynostosis, Short neck, Postaxial hand polydactyly, Hypoplasia of the sm... OMIM:200995
Fg Syndrome Type 1
Hypospadias, Short stature, Cryptorchidism, Small pituitary gland, Abnormal social behavior, Slen... ORPHA:93932
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... OMIM:269700
Williams-Beuren Syndrome
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of th... OMIM:194050
Ogden Syndrome
Postnatal growth retardation, Cryptorchidism ORPHA:276432
Ochoa Syndrome
Cryptorchidism ORPHA:2704
Carney Complex
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... ORPHA:1359
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... OMIM:209885
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Cree Mental Retardation Syndrome
Bifid scrotum, Cryptorchidism, Hypospadias OMIM:606851
Mesomelia-Synostoses Syndrome
Microretrognathia, Convex nasal ridge, Progressive forearm bowing, Micrognathia, Short metatarsal... OMIM:600383
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Chromosome Xp11.3 Deletion Syndrome
Cryptorchidism, Short stature OMIM:300578
Peters Plus Syndrome
Ureteral duplication, Micrognathia, Short neck, Clinodactyly of the 5th finger, Spina bifida occu... ORPHA:709
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Short stature, Micrognathia, Down-sl... ORPHA:1974
Ritscher-Schinzel Syndrome 4
Cryptorchidism, Micropenis, Short stature OMIM:619435
Mandibuloacral Dysplasia Progeroid Syndrome
Micrognathia, Flexion contracture, High palate, Depressed nasal bridge, Short stature, Narrow nas... OMIM:619127
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Orofacial Cleft 15
Cryptorchidism OMIM:616788
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... ORPHA:1101
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Hypospadias, Short stature, Bilateral cryptorchidism, Cryptorchidism, Central hypothyroidism, Gro... OMIM:300998
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism ORPHA:2519
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia ORPHA:1300
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Anteverted nares, Urina... ORPHA:2729
Mckusick-Kaufman Syndrome
Short stature, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Failure to thrive, Urogen... ORPHA:2473
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Rhizomelia, Short stature OMIM:602471
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Small for gestational age, Aplastic anemia, Short stature, Crypt... ORPHA:221008
Buratti-Harel Syndrome
Cryptorchidism, Hypospadias OMIM:619314
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:618929
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Short stature, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnor... ORPHA:2719
Arthrogryposis, Distal, Type 3
Cryptorchidism, Short stature OMIM:114300
Alagille Syndrome
Hepatomegaly, Cryptorchidism, Cholestasis, Reduced number of intrahepatic bile ducts, Delayed pub... ORPHA:52
Jaberi-Elahi Syndrome
Depressed nasal bridge, Kyphosis, Scoliosis, Short nose, Failure to thrive OMIM:617988
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture... OMIM:259050
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Koolen-De Vries Syndrome
Hypospadias, Short stature, Cryptorchidism, Hypothyroidism, Overfriendliness ORPHA:96169
Macs Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Short stature, Decreased body weight OMIM:613075
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Short stature ORPHA:1131
Costello Syndrome
Cryptorchidism, Failure to thrive in infancy, Short stature ORPHA:3071
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism ORPHA:2063
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... ORPHA:447
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of the endocrine system, Cryptorchidism, Short stature, Intrauterine growth retardation ORPHA:166035
Cousin Syndrome
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... OMIM:260660
Kleefstra Syndrome 1
Cryptorchidism, Micropenis, Hypospadias, Obesity OMIM:610253
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Short stature, Abnormal preputium morpho... ORPHA:84
Autosomal Recessive Multiple Pterygium Syndrome
Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Absence of labia majora, Hypog... ORPHA:2990
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis ORPHA:139471
Genitopatellar Syndrome
Cryptorchidism, Small scrotum, Short stature, Clitoral hypertrophy ORPHA:85201
Listeriosis
Back pain, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Rhabdomyoly... ORPHA:533
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th f... OMIM:618619
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Growth delay, Cryptorchidism, Short stature ORPHA:457193
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Intrauterine growth retardation OMIM:620327
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Short stature, Cryptorchidism, Neonatal death, Failure to thrive OMIM:620024
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Short stature, Abnormality of neutrophils, Postnatal growth reta... ORPHA:235
Autosomal Dominant Cutis Laxa
Genu recurvatum, Unilateral renal agenesis, Postnatal growth retardation, Hip dislocation, Bronch... ORPHA:90348
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... OMIM:251000
Trisomy 1Q
Ambiguous genitalia, Cryptorchidism, Small scrotum ORPHA:261344
Rubinstein-Taybi Syndrome
Cryptorchidism, Failure to thrive in infancy, Short stature ORPHA:783
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, Sacral dimple, Small for gestational age, Anteverted nares, Sandal gap, Phi... ORPHA:363611
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Small for gestational age, Short stature, Chronic pancreatitis, Crypto... OMIM:307030
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism, Short stature ORPHA:221120
Catel-Manzke Syndrome
Joint dislocation, Short neck, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th f... OMIM:616145
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic... OMIM:619503
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis OMIM:619718
Weaver Syndrome
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia OMIM:277590
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Prominent nasal tip, Sandal gap, Eczema, Short neck, Broad nasal tip, Long... OMIM:620330
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia OMIM:264480
Pontocerebellar Hypoplasia, Type 7
Ambiguous genitalia, Cryptorchidism, Micropenis OMIM:614969
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the lower limbs, ... ORPHA:289176
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Anemia, Growth delay, Intrauterine growth retardatio... ORPHA:93325
Crane-Heise Syndrome
Cryptorchidism, Hypoplasia of penis, Intrauterine growth retardation ORPHA:1512
Acrocardiofacial Syndrome
Death in infancy, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Cryptorchidism, Intrauterine... ORPHA:2008
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, D... OMIM:214100
X-Linked Intellectual Disability, Cantagrel Type
Short nose ORPHA:85277
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... OMIM:233450
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Short stature, Delayed cranial sutur... OMIM:601088
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Vaginal atresia ORPHA:3301
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism, Maternal diabetes ORPHA:3027
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of f... ORPHA:920
Menke-Hennekam Syndrome 1
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Micrognathia, Underd... OMIM:618332
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, B lymphocytopenia, Int... ORPHA:79324
Ohdo Syndrome, Sbbys Variant
Cryptorchidism, Hypospadias, Hypothyroidism OMIM:603736
Turnpenny-Fry Syndrome
Mandibular prognathia, Prominent interphalangeal joints, High palate, Hypoplasia of the primary t... OMIM:618371
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Short stature, Cryptorchidism, Penoscrotal... OMIM:619148
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad... OMIM:147920
Ritscher-Schinzel Syndrome 2
Postnatal growth retardation, Cryptorchidism OMIM:300963
Beta-Thalassemia Major
Bowing of the long bones, Depressed nasal bridge, Failure to thrive in infancy, Hypoplasia of the... ORPHA:231214
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, High, narrow palate, Abnormal curvature of the vertebral column, High palate, Otitis m... OMIM:619475
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Prominent metopic ridge, Anteverted nares, Growth delay, Short nose OMIM:103050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Congenital hypothyroidism, Hydrocele testis,... OMIM:620186
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Growth delay, Death in childhood, Shawl scrotum, Micropenis OMIM:600460
Peho Syndrome
Anteverted nares, Tapered finger, Flexion contracture, Malar flattening, Short nose, Arthrogrypos... ORPHA:2836
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hypoplastic nipples OMIM:618505
Craniopharyngioma
Proportionate short stature, Postnatal growth retardation, Obesity, Growth delay, Delayed puberty... ORPHA:54595
Trisomy 8Q
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus ORPHA:1752
Gangliocytoma
Polyphagia ORPHA:251937
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Severe short stature, Miscarriage ORPHA:1865
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Failure to thrive, Anteverted nares, Depressed nasal bridge, Micrognathia, Metatarsus adductus, O... ORPHA:513456
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, L... ORPHA:96191
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cryptorchidism OMIM:619244
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Cryptorchidism, Prominent scrotal raphe, Abnormality of the pancreas ORPHA:1555
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Large for gestational age, Cryptorchidism,... OMIM:229850
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, High palate, P... OMIM:135900
Flat Face-Microstomia-Ear Anomaly Syndrome
Cryptorchidism, Small scrotum ORPHA:1968
Split Lower Lip
Narrow maxilla OMIM:183400
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... ORPHA:2036
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... OMIM:157170
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... OMIM:618280
Say-Barber-Miller Syndrome
Short stature, Cryptorchidism, Abnormal T cell morphology, Hypogonadism, Impaired neutrophil chem... ORPHA:3132
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Hypospadias OMIM:619103
Acromelic Frontonasal Dysplasia
Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Short stature, Coxa valga, Hypoplasia of the maxilla, Cariou... OMIM:182250
Noonan Syndrome
Hepatomegaly, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Abnormality of the sp... ORPHA:648
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Malar flattening, Short nose, ... OMIM:229400
Cockayne Syndrome A
Hepatomegaly, Short stature, Cryptorchidism, Splenomegaly, Irregular menstruation, Severe postnat... OMIM:216400
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Polyphagia, Obesity, Short stature ORPHA:79444
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Takenouchi-Kosaki Syndrome
Cryptorchidism, Thrombocytopenia, Hypospadias, Increased mean platelet volume OMIM:616737
Ellis-Van Creveld Syndrome
Hypospadias, Epispadias, Cryptorchidism, Disproportionate short-limb short stature, Neonatal shor... OMIM:225500
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Short stature, Phimosis, Cryptorchidism, Throm... OMIM:305000
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Small for gestational age, Postnatal growth retardation, Cryp... OMIM:133540
Trichothiodystrophy
Cryptorchidism, Increased mean corpuscular hemoglobin concentration, Gonadal dysgenesis, Neutrope... ORPHA:33364
Intellectual Developmental Disorder, Autosomal Dominant 53
Growth delay, Cryptorchidism, Micropenis OMIM:617798
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... ORPHA:470
Meier-Gorlin Syndrome 7
Hypospadias, Short stature, Cryptorchidism, Growth delay, Breast aplasia, Decreased body weight, ... OMIM:617063
Fanconi Anemia, Complementation Group L
Growth delay, Bone marrow hypocellularity, Aplasia of the uterus, Intrauterine growth retardation... OMIM:614083
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Proteinuria, Glomerulonephritis, Epistaxis, Pneumonia, Chronic kidney disease,... ORPHA:340
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia OMIM:619036
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo... ORPHA:139402
Hamamy Syndrome
Hypoparathyroidism, Cryptorchidism, Hypochromic anemia, Microcytic anemia OMIM:611174
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Decreased body weight, Micropenis, Shawl scrotum OMIM:300895
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitia... ORPHA:488627
Leopard Syndrome 1
Hypospadias, Short stature, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the o... OMIM:151100
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Obesity, Male hypogonadism, Micropenis, Pancreatitis OMIM:619471
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Hypoplasia of facial musculature, Renal agenesis, ... OMIM:164210
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Noonan Syndrome With Multiple Lentigines
Hypospadias, Short stature, Cryptorchidism, Decreased fertility, Growth delay, Intrauterine growt... ORPHA:500
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... OMIM:236700
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Jaundice, Obesity,... OMIM:614231
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Microphthalmia, Lenz Type
Cryptorchidism, Hypospadias, Short stature ORPHA:568
Chromosome 8Q21.11 Deletion Syndrome
Growth delay, Cryptorchidism, Micropenis OMIM:614230
Pallister-Killian Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion co... OMIM:601803
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Thrombocytopenia, Micropenis, Anemia ORPHA:163979
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Crypto... OMIM:235510
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Acute ... OMIM:223370
X-Linked Acrogigantism
Increased body mass index, Polyphagia, Delayed puberty ORPHA:300373
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Hartsfield Syndrome
Syndactyly, Wide nose, Hypospadias, Craniosynostosis, Cleft palate, Growth delay, Ectrodactyly, M... OMIM:615465
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... OMIM:206900
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Intrauterine growth retardation OMIM:614438
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Prominent nasal bridge, Ectopic kidney, Short toe, Wide nasal bridge, Clinodac... ORPHA:1519
Vacterl With Hydrocephalus
Cryptorchidism, Intrauterine growth retardation, Abnormal fallopian tube morphology ORPHA:3412
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Noonan Syndrome 2
Cryptorchidism, Leukemia, Short stature OMIM:605275
14Q22Q23 Microdeletion Syndrome
Small scrotum, Short stature, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, ... ORPHA:264200
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Distal Deletion 19P
Hypoplasia of the maxilla, Long toe, Arachnodactyly, Cleft palate ORPHA:96129
Opitz Gbbb Syndrome
Growth delay, Cryptorchidism, Micropenis, Hypospadias OMIM:300000
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Cryptorchidism, Chordee, Short stature, Supernumerary nipple OMIM:616728
Mend Syndrome
Abnormal social behavior, Cryptorchidism, Failure to thrive, Short stature ORPHA:401973
Geleophysic Dysplasia 2
Short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short palm, Short nose OMIM:614185
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Short stature, Intrauterine growth retardation ORPHA:250989
Recombinant 8 Syndrome
Cryptorchidism, Small scrotum, Hypoplastic male external genitalia ORPHA:96167
Chromosome 17Q12 Deletion Syndrome
Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicor... OMIM:614527
Mosaic Trisomy 8
Cryptorchidism, Short stature, Decreased testicular size ORPHA:96061
Pitt-Hopkins Syndrome
Supernumerary nipple, Postnatal growth retardation, Cryptorchidism, Growth delay, Micropenis, Fai... ORPHA:2896
Larsen Syndrome
Cryptorchidism, Short stature ORPHA:503
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Small for gestational age, Short stature, Precocious puberty, Cryp... OMIM:194190
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Death in infancy, Small scrotum, Hypospadias, Short stature, Septate... OMIM:270400
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Short stature, Cryptorchidism, Growth delay, Neutrope... ORPHA:221016
8Q21.11 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of penis ORPHA:284160
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, T... OMIM:305100
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Polyphagia, Obesity, Short stature ORPHA:79443
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma ORPHA:2874
Geleophysic Dysplasia 1
Anteverted nares, Short stature, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital f... OMIM:231050
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Bicornuate uterus, S... ORPHA:2745
Johanson-Blizzard Syndrome
Hepatic fibrosis, Death in childhood, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Shor... OMIM:243800
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia ORPHA:2250
Cerebellofaciodental Syndrome
Cryptorchidism, Short stature OMIM:616202
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
Craniofrontonasal Syndrome
Hypospadias, Short stature, Cryptorchidism, Shawl scrotum, Unilateral breast hypoplasia, Breast h... OMIM:304110
Truncus Arteriosus
Intrauterine growth retardation, Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Penile Agenesis
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Fetal pyelectasis, B... ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical ... OMIM:619351
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Growth delay, Cryptorchidism, Portal hypertension, Hepatosplenomegaly OMIM:609136
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Hypospadias, Short stature, Cryptorchidism, Failure to thrive, Penile hypospadias OMIM:620083
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Small for gestational age, Hypospadias, Short statu... ORPHA:1596
Combined Oxidative Phosphorylation Deficiency 9
Hyperalaninemia, Tubulointerstitial nephritis, Failure to thrive OMIM:614582
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Small for gestational age, Cryptorchidism, Birth length less than 3rd percentile, Po... ORPHA:464311
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Distal Deletion 3P
Cryptorchidism, Short stature, Intrauterine growth retardation ORPHA:1620
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Asplenia, Pulmonary lymphangiectasia, Bicornuate uterus, Neonatal death, Annular pan... OMIM:265380
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Cryptorchidism, Growth delay, Ectopic... ORPHA:3047
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Clinodactyly of the 4th finge... ORPHA:79134
Noonan Syndrome 3
Cryptorchidism, Juvenile myelomonocytic leukemia, Short stature OMIM:609942
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Short stature OMIM:192430
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Small for gestational age, Short stature, Cryptorchid... ORPHA:464306
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Intrauterine growth retardation OMIM:300712
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Chordee, Intrauterine ... OMIM:151050
Encephalocraniocutaneous Lipomatosis
Cryptorchidism OMIM:613001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Death in infancy ORPHA:2241
Diphallia
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... ORPHA:227
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Severe short stature, Failure to thrive, Infancy onset short-trunk short stature ORPHA:444072
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Hypospadias, Cryptorchidism, Neutropenia, Micropenis ORPHA:163956
Waardenburg Syndrome, Type 4C
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism OMIM:613266
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small fo... ORPHA:363958
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, D... OMIM:618183
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Sc... ORPHA:522077
1P36 Deletion Syndrome
Hepatic steatosis, Hypoplasia of penis, Hypospadias, Short stature, Cryptorchidism, Abnormality o... ORPHA:1606
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Bilateral cryptorchidism, Short stature, Hypogonadism, Anemia ORPHA:3042
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft... ORPHA:33001
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Pancre... OMIM:130650
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Delay... ORPHA:293987
Limb-Mammary Syndrome
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... ORPHA:69085
Codas Syndrome
Cryptorchidism, Rectovaginal fistula, Short stature OMIM:600373
Xeroderma Pigmentosum
Short stature, Cryptorchidism, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:910
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Micropenis, Obesity, Supernumerary nipple OMIM:618653
Perlman Syndrome
Cryptorchidism, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:267000
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Fai... ORPHA:2322
Noonan Syndrome 10
Cryptorchidism, Short stature OMIM:616564
Doors Syndrome
Ambiguous genitalia, Thrombocytosis, Adrenal hyperplasia, Congenital hypothyroidism ORPHA:79500
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Splenomegaly,... ORPHA:116
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Epispa... ORPHA:2658
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Crypto... ORPHA:138
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, Hydrocele te... ORPHA:2152
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Tracheomalacia, Micrognathia, Osteopathia striata, Cr... OMIM:300373
Axenfeld-Rieger Syndrome, Type 1
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Anal atresia OMIM:180500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Cryptorchidism, Failure to thrive, Short stature, Large for gestational age OMIM:607721
Gitelman Syndrome
Proteinuria, Urinary incontinence, Hashimoto thyroiditis, Decreased urinary potassium, Rhabdomyol... ORPHA:358
1P21.3 Microdeletion Syndrome
Broad nasal tip, Obesity, Short nose, Micrognathia ORPHA:293948
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Ehlers-Danlos Syndrome, Vascular Type
Short stature, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolap... OMIM:130050
Native American Myopathy
Cryptorchidism, Short stature ORPHA:168572
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Shyness, Bilateral cryptorchidism, Cryptorch... ORPHA:466791
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism OMIM:613834
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Chordee, Hypospadias, Supernumerary nipple ORPHA:477993
Neurooculorenal Syndrome
Ectopic posterior pituitary, Decreased circulating cortisol level, Postnatal growth retardation, ... OMIM:620305
Peroxisome Biogenesis Disorder 4B
Short nose, Ureterocele OMIM:614863
Congenital Myopathy 13
Cryptorchidism, Short stature OMIM:255995
Neurofibromatosis Type 1
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Chronic m... ORPHA:636
Mend Syndrome
Cryptorchidism, Failure to thrive, Short stature OMIM:300960
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ambiguous genitalia, Cryptorchidism, Micropenis, Growth delay OMIM:617641
Diets-Jongmans Syndrome
Cryptorchidism, Hypospadias, Short stature OMIM:618846
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Hallermann-Streiff Syndrome
Cryptorchidism, Hypothyroidism, Abdominal situs inversus, Proportionate short stature ORPHA:2108
Double Outlet Left Ventricle
Cryptorchidism, Failure to thrive ORPHA:3427
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Unilateral renal agenesis, Proboscis, Abnorma... ORPHA:141099
Faundes-Banka Syndrome
Premature thelarche, Cryptorchidism, Delayed puberty, Intrauterine growth retardation, Failure to... OMIM:619376
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate ute... ORPHA:2052
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal interstitial edema, ... ORPHA:91500
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Obesity, Dysphagia, Growth delay, Camptodactyly, Po... OMIM:607872
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Chromosome 13Q14 Deletion Syndrome
Growth delay, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:613884
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Short ... ORPHA:857
Fraser Syndrome 1
Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormal thymus morphology, Micropenis, Vaginal a... OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, Hydrocele te... ORPHA:261537
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali... ORPHA:438213
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to th... ORPHA:649
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Stillbirth, Neonatal death, Intrauterine growth retardation OMIM:256520
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Polyuria, Narrow nasal ridge, Recurrent pancreat... OMIM:606721
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Stillbirth, Small for gestational age, Intrauterine growth retardation OMIM:208150
Kinsship Syndrome
Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyl... OMIM:619297
Mosaic Trisomy 20
Cryptorchidism, Intrauterine growth retardation ORPHA:1724
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Jaundice, Biliary atresia, Oligozoospermia, Inappropriate beh... ORPHA:3310
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Small scrotum, Hypospadias, Short stature OMIM:616734
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Hypospadias, Short stature, Cryptorchidism, Paroxysmal bursts of laughter, Obesity... OMIM:309580
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Short stature OMIM:601321
Poland Syndrome
Diabetes mellitus, Hypospadias, Cryptorchidism, Acute leukemia, Abnormality of the liver ORPHA:2911
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Microphthalmia, Syndromic 2
Hypospadias, Short stature, Septate vagina, Cryptorchidism, Adrenal insufficiency, Decreased body... OMIM:300166
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Cryptorchidism, Rectoperineal fistula OMIM:618748
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Intestinal p... ORPHA:90068
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... ORPHA:289390
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, Hydrocele te... ORPHA:261552
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Short stature OMIM:619657
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... ORPHA:93271
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum, Anal atresia ORPHA:63260
X-Linked Intellectual Disability, Armfield Type
Cryptorchidism, Short stature ORPHA:85276
Wrinkly Skin Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Fai... ORPHA:2834
Sarcoidosis
Renal insufficiency, Abnormal nasal mucosa morphology, Maculopapular exanthema, Hypercalcemia, Fa... ORPHA:797
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Abnormality of the hypoth... OMIM:607932
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Cryptorchidism OMIM:616682
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Hair-pulling, Soci... ORPHA:2388
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive OMIM:306955
Diaphragmatic Hernia 4, With Cardiovascular Defects
Cryptorchidism, Hepatomegaly OMIM:620025
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria, Tubuloin... OMIM:124000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Treacher Collins Syndrome 1
Cryptorchidism, Abnormal parotid gland morphology OMIM:154500
Genitopatellar Syndrome
Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypoplasia, Micropenis, Hypothyroidi... OMIM:606170
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla OMIM:313500
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ... ORPHA:79078
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Hypospadias, Short stature, Cryptorchidism, Growth delay, Death in childhood, N... OMIM:308205
Intermediate Uveitis
Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis ORPHA:279914
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Vascular Ehlers-Danlos Syndrome
Hypospadias, Short stature, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Trichotillomania
Hair-pulling OMIM:613229
Alström Syndrome
Dorsocervical fat pad, Short stature, Obesity, Truncal obesity, Delayed menarche, Polyphagia ORPHA:64
Monosomy 22Q13.3
Hair-pulling, Obesity ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling OMIM:616393
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling ORPHA:447997

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 Arid5b

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 Arid5b.

No publications found that use IMPC mice or data for Arid5b.

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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
Arid5btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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