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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Lipomatosis, Familial Multiple
Multiple lipomas OMIM:151900
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ... ORPHA:2098
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly 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
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Leri-Weill Dyschondrosteosis
Mesomelia, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal meta... OMIM:127300
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71529
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Caudal Appendage-Deafness Syndrome
Short stature, Cryptorchidism ORPHA:1123
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Death in childhood, Hypoplasia of the thymus OMIM:200900
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Micrognathia, Malar flattening, ... ORPHA:217340
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Delayed puberty, Growth ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Polyphagia, Childhood-onset truncal obesity, Delayed puberty, Growth ... ORPHA:71526
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Short neck, Short nose, Short stat... ORPHA:2015
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Adrenal insufficiency, Cryptorc... OMIM:617053
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Short stature ORPHA:85274
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Bowen-Conradi Syndrome
Cryptorchidism, Death in infancy, Severe postnatal growth retardation, Severe intrauterine growth... ORPHA:1270
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop... OMIM:619151
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity, Polyphagia ORPHA:329249
3Mc Syndrome 2
Wide nasal bridge, Abnormal vertebral morphology, Hypoplasia of the musculature, Caudal appendage... OMIM:265050
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Cryp... ORPHA:261483
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Prominent nose, Hyperbilirubinemia, Renal tubular dysfunction, Prominence of t... OMIM:614886
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Verheij Syndrome
Short 5th finger, Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Small for gestational age... OMIM:615583
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Dislocation Of The Hip-Dysmorphism Syndrome
Wide nasal bridge, Congenital hip dislocation, Depressed nasal ridge, Abnormality of the urinary ... ORPHA:2412
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Flattened epiphysis, High palate, Flat acetabular roof, Short nose, Ovo... ORPHA:163649
Non-Distal Duplication 10Q
Depressed nasal bridge, Abnormality of the urinary system, Micrognathia, Convex nasal ridge, Shor... ORPHA:1695
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Obesity, Cubitus valgus, High palate, Short foot, Sho... OMIM:300577
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Renal hypoplasia/aplasia, Radioulnar synostosis, A... ORPHA:1988
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... OMIM:617241
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Genu valgum, ... ORPHA:166016
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Cryptorchidism OMIM:309585
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Atelosteogenesis, Type Iii
Depressed nasal bridge, Tombstone-shaped proximal phalanges, Hypoplasia of the maxilla, Cervical ... OMIM:108721
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Obesity OMIM:618406
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163976
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Retrognathia, Failure to thrive in infancy, Obesity, Malar flattening, Enuresis,... OMIM:613670
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Oliver-Mcfarlane Syndrome
Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo... OMIM:275400
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Even-Plus Syndrome
Epiphyseal dysplasia, Depressed nasal ridge, Renal hypoplasia, Bifid nasal tip, Atopic dermatitis... OMIM:616854
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Intervertebral space narrowing, Radial head subluxation, Patellar disl... OMIM:614078
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Cryptorchidism, Aplasia/Hypoplasia of the testes, Short stature, Hypoplasia of penis ORPHA:3055
Miller-Dieker Syndrome
Nephropathy, Sacral dimple, Anteverted nares, Short nose, Clinodactyly of the 5th finger, Growth ... ORPHA:531
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Hao-Fountain Syndrome
Micropenis, Premature adrenarche, Cryptorchidism OMIM:616863
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Obesity And Hypopigmentation
Polyphagia, Obesity OMIM:620195
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F... ORPHA:1106
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Radial head subluxation, Anal atresia, H... OMIM:601390
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Micrognathia, Myopathy, Delayed puberty, High palate, Scoliosis,... ORPHA:2598
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism ORPHA:1074
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility, Miscarriage OMIM:619176
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Bilateral renal atrophy, Ankle swelling, Carpal osteolysis, Wrist swel... OMIM:166300
Diaphanospondylodysostosis
Nephrogenic rest, Micrognathia, Short neck, Lumbosacral meningocele, Disproportionate short-trunk... OMIM:608022
46,Xy Sex Reversal 4
Depressed nasal ridge, Recurrent otitis media, Elevated circulating creatinine concentration, Pro... OMIM:154230
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Short nose, Intrauterine growth retardation, Micro... ORPHA:2145
Malan Syndrome
Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Long fingers, Short nose... OMIM:614753
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Failure to thrive, Intrauterine growth retardation, Death in childhood, Cry... OMIM:214110
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Short neck, Flattened epiphysis, Adva... OMIM:251450
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypothyroidi... ORPHA:3363
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormality of the ureter, Anteverted nares, Hydronephrosis, Short nose ORPHA:1450
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose OMIM:137550
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Gracile Bone Dysplasia
Failure to thrive, Death in infancy, Short stature, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Multiple Symmetric Lipomatosis
Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa va... ORPHA:439822
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Depressed nasal bridge, Cone-shaped epiphysis, Spinal canal stenosis, Anteverted nar... OMIM:614613
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Small for gestational age, Clinodactyl... OMIM:614261
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Bardet-Biedl Syndrome 22
Polyphagia, Obesity, Large for gestational age OMIM:617119
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Failure to thrive, Absence of secondary sex characteristics, Decreased testicu... ORPHA:163971
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microglossia, Microretrognathia, Ren... ORPHA:1307
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ... OMIM:614817
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Renal hypoplasia, Split hand, Camptodactyly, High p... OMIM:246560
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus, Hyperthyroidism, Anemia, Miscarriage ORPHA:99927
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph... ORPHA:90653
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Prominence of... OMIM:602535
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Narrow nasal bridge, Hip dysplasia, Flexion contracture, Scoliosis, Short nose OMIM:618379
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Obesity, Aggressive behavior, Self-mutilation OMIM:616521
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Failure to thrive, Malar flat... OMIM:602342
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Growth delay, Broad hallux, Failure to thrive, Postnat... OMIM:614541
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Short nose, Clinodactyly of t... OMIM:619736
Microphthalmia, Syndromic 9
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Neo... OMIM:601186
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar... OMIM:620501
Microcephaly 16, Primary, Autosomal Recessive
Short stature, Cryptorchidism, Decreased body weight OMIM:616681
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Nail-Patella Syndrome
Thickened glomerular basement membrane, Decreased muscle mass, Abnormal tibia morphology, Contrac... ORPHA:2614
17P13.3 Microduplication Syndrome
Congenital hip dislocation, Short neck, Clinodactyly of the 5th finger, High palate, Hypoplasia o... ORPHA:217385
Peho-Like Syndrome
Retrognathia, Polymicrogyria, Short nose, Pachygyria, Lissencephaly, Tapered finger OMIM:617507
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Leukodystrophy, Hypomyelinating, 21
Hypogonadotropic hypogonadism, Growth delay, Cryptorchidism, Failure to thrive OMIM:619310
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... OMIM:619598
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p... ORPHA:166272
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome
Cryptorchidism ORPHA:1568
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Short neck, Hypospadias, Short nose, Flexion contractur... OMIM:616897
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Short stature, Hypospadias, Short nose ORPHA:1355
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Increased blood urea ni... ORPHA:251004
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel... ORPHA:2639
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... ORPHA:1529
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Malar flatt... OMIM:614524
Gordon Syndrome
Short stature, Cryptorchidism ORPHA:376
Image Syndrome
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Adrenal hypoplasia, Hypospadias ORPHA:85173
Seckel Syndrome 7
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... OMIM:614851
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Obesity ORPHA:369873
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B c... OMIM:208900
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Renal hypoplasia, Toe syndactyly, Renal agenesis, Anteverted nares, Micro... ORPHA:171839
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, High palate, Gray matter heterotopia, Hy... OMIM:615546
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Hypoplasia of the maxilla, Lower limb muscle weakness, Urinary bl... OMIM:300266
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Microglossia, Renal dysplasia... OMIM:241800
Wilson-Turner Syndrome
Short stature, Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity ORPHA:3459
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptorchidism, ... ORPHA:3085
Leptin Deficiency Or Dysfunction
Polyphagia, Obesity OMIM:614962
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism OMIM:615982
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Long hallux, Narrow vertebral interpedicular distance, Dislocated radial head,... OMIM:101800
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia, Failure to thrive, Decreased body weight OMIM:620085
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Death in child... OMIM:615597
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture... OMIM:136760
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
3C Syndrome
Finger syndactyly, Postnatal growth retardation, Micrognathia, Short neck, Anal atresia, Hypospad... ORPHA:7
Smith-Magenis Syndrome
Toe syndactyly, Abnormality of the ureter, Micrognathia, Delayed eruption of primary teeth, Renal... ORPHA:819
Polydactyly-Myopia Syndrome
Cryptorchidism ORPHA:2917
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Small for gestational age, Cryptorchidism ORPHA:319332
Chromosome Xq27.3-Q28 Duplication Syndrome
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Intrauterine... OMIM:300869
X-Linked Intellectual Disability, Siderius Type
Decreased testicular size, Cryptorchidism ORPHA:85287
Isolated Glycerol Kinase Deficiency
Short stature, Adrenocortical hypoplasia, Cryptorchidism ORPHA:408
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Slender build, Prominent nasal bridge, High palate, Scoliosis, Mandibu... OMIM:300676
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Disproportionate short-limb short stature, Stillbirth, Short... OMIM:269250
Tetralogy Of Fallot
Intrauterine growth retardation, Cryptorchidism ORPHA:3303
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Cryptorch... ORPHA:91
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
1Q21.1 Microduplication Syndrome
Hypospadias, Cryptorchidism, Failure to thrive ORPHA:250994
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Ery... OMIM:612541
Mehmo Syndrome
Growth delay, External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of pen... ORPHA:85282
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
3Q13 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism ORPHA:1621
Three M Syndrome 1
Postnatal growth retardation, Short neck, Hypospadias, Mandibular prognathia, Hip dislocation, Sh... OMIM:273750
Recon Progeroid Syndrome
Skeletal muscle atrophy, Growth delay, Underdeveloped nasal alae, Anteverted nares, Prominent nas... OMIM:620370
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Leptin Receptor Deficiency
Aggressive behavior, Obesity, Abnormal eating behavior, Polyphagia OMIM:614963
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Cryptorchidism, Death in infancy, Hypothyroidism,... ORPHA:95496
Hypotonia-Cystinuria Syndrome
Polyphagia, Growth delay, Failure to thrive ORPHA:163690
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, High palate, Short nose ORPHA:261120
Tibial Hemimelia
Absent tibia OMIM:275220
Chromosome 15Q26-Qter Deletion Syndrome
Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Short stature, Micropenis, Hy... OMIM:612626
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Truncal obesity, Scoliosis, Kyphosis, Short nose ORPHA:2429
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, High p... OMIM:206920
Aarskog-Scott Syndrome
Wide nasal bridge, Genu recurvatum, Small hand, Hypoplasia of the maxilla, Finger syndactyly, Del... ORPHA:915
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Intrauterine growth retardation, Increased ... ORPHA:96181
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Short neck, Broad phalanx, ... OMIM:166250
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Growth delay, Clinodactyly, Recurrent otitis media, Bulbous nose, Anteverted n... OMIM:613604
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Abnormality of the upper u... ORPHA:2547
Aicardi Syndrome
Recurrent pneumonia, Block vertebrae, Polymicrogyria, Postnatal growth retardation, Anteverted na... OMIM:304050
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Retrognathia, Unilateral renal dysp... ORPHA:93110
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Failure to thrive, Lymphope... OMIM:602450
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Abnormal renal morphology, Short neck, Brachydactyly, Sho... ORPHA:221054
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior ORPHA:261229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Intrauterine growth retardation, Hypospadias, Cryptorchidism OMIM:616910
Foxp1 Syndrome
Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Broad nas... ORPHA:391372
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Depressed nasal bridge, Clinodactyly, Recurrent otitis media, Postnatal ... ORPHA:96184
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Faci... OMIM:218000
Baller-Gerold Syndrome
Abnormality of the ureter, Micrognathia, Aplasia/Hypoplasia of the patella, Bowing of the long bo... ORPHA:1225
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Wide distal femoral... OMIM:613320
N Syndrome
Leukemia, Hypospadias, Cryptorchidism OMIM:310465
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Hypoplasia of the maxilla, Bro... OMIM:252100
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Failure to thrive, Slender bu... OMIM:608154
Carey-Fineman-Ziter Syndrome
Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Growt... ORPHA:1358
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type II diabetes mellitus, Poly... ORPHA:100
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Distal Deletion 10Q
Clinodactyly, Postnatal growth retardation, Micrognathia, High palate, Anal atresia, Hip dislocat... ORPHA:96148
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Herniation of intervertebral nuclei, Intervertebral spa... OMIM:601216
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti... OMIM:601559
Immunodeficiency 9
Failure to thrive, Lymphopenia, Death in infancy, Hypoplasia of the thymus, Abnormal natural kill... OMIM:612782
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Recurrent pneumonia, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Shor... ORPHA:1495
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia... ORPHA:2083
Baraitser-Winter Syndrome 1
Wide nasal bridge, Retrognathia, Failure to thrive, Postnatal growth retardation, Anteverted nare... OMIM:243310
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Obesity, Microgna... ORPHA:254531
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo... OMIM:268305
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Stt3B-Cdg
Small scrotum, Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Thrombocytopen... ORPHA:370924
Cockayne Syndrome Type 1
Foot joint contracture, Failure to thrive, Postnatal growth retardation, Hypoplasia of the primar... ORPHA:90321
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... ORPHA:49041
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Trigonocephaly 1
High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long penis, Meckel diverticulum, Me... OMIM:190440
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Adrenog... OMIM:202110
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... ORPHA:56305
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Prominent nasal bridge, Short s... ORPHA:85279
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Abn... ORPHA:2634
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis, Short stature OMIM:301900
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of the zygoma... ORPHA:1798
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Short neck, Short... OMIM:305400
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Short stature, Secondary ... ORPHA:1643
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Satoyoshi Syndrome
Short stature, Amenorrhea, Hypoplasia of the uterus OMIM:600705
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine growth retardation, Micrognat... OMIM:615419
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic plat... OMIM:618961
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flatteni... ORPHA:93262
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Cryptorchidism, Anemia, Hypospadias, Small for gestational age OMIM:620135
Fetal Trimethadione Syndrome
Depressed nasal bridge, Intrauterine growth retardation, Micrognathia, High palate, Scoliosis, Hy... ORPHA:1913
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Schaaf-Yang Syndrome
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Short stature, Fl... OMIM:615547
Cornelia De Lange Syndrome 5
Depressed nasal bridge, Small hand, Toe syndactyly, Broad nasal tip, Retrognathia, Postnatal grow... OMIM:300882
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Intrauterine growth retardation, Cryptorchidism ORPHA:2489
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Platyspondyly, Rhizomelia, ... ORPHA:163966
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:502430
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Postnatal growth retardation, Hip contracture, Short neck, Flexion... OMIM:193700
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Fetal Minoxidil Syndrome
Cryptorchidism ORPHA:1918
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Holoprosencephaly 9
Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Ab... OMIM:610829
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Perlman Syndrome
High, narrow palate, Wide nasal bridge, Retrognathia, Anteverted nares, Micrognathia, Nephroblast... ORPHA:2849
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, High pala... OMIM:617991
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Short stature, Spina bifida occulta, Short ... ORPHA:1514
Fetal Akinesia Deformation Sequence 4
Cryptorchidism, Prenatal death, Neonatal death OMIM:618393
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar ... ORPHA:93328
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Retinitis Pigmentosa 59
Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Hepatomegaly, Micropenis OMIM:613861
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Failure to thrive, Polymicrogyria, Anteverted nares, I... OMIM:219200
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Choanal atresia, Growth delay, Retrog... ORPHA:2409
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Cryptorchidism, Death in childhood OMIM:618766
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Postnatal growth retardation, Hypercalcemia, Intrau... OMIM:614732
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... ORPHA:3078
Aicardi Syndrome
Small hand, Block vertebrae, Polymicrogyria, Intestinal polyposis, Butterfly vertebrae, Prominenc... ORPHA:50
Autosomal Recessive Distal Osteolysis Syndrome
Short stature, Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip ORPHA:2776
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Sandal gap, Failure to thrive, Intestinal malrotation, Narrow nose, Intrauterine g... OMIM:617602
Micro Syndrome
Wide nasal bridge, Abnormal localization of kidney, Kyphosis, Anteverted nares, Micrognathia, Int... ORPHA:2510
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hypogonadotr... OMIM:610628
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Obesity ORPHA:177910
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Endocardial Fibroelastosis
Anterior hypopituitarism, Hypoplasia of penis, Cryptorchidism ORPHA:2022
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Chromosome 6Q11-Q14 Deletion Syndrome
Broad nasal tip, Sacral dimple, Micrognathia, Prominent nasal bridge, Short neck, Short stature, ... OMIM:613544
Miller-Dieker Lissencephaly Syndrome
Lissencephaly, Wide nasal bridge, Recurrent aspiration pneumonia, Joint contracture of the hand, ... OMIM:247200
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnormal distal phalanx morphology of fi... ORPHA:2673
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Micrognathia, Elevated circulating creatine kinase concentration, High pa... OMIM:615042
Temple Syndrome
Postnatal growth retardation, Obesity, Polyphagia, Short stature, Small for gestational age ORPHA:254516
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Retrognathia, Hyperplasia of the maxil... OMIM:300280
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Nephrocalcinosis, Retrognathia, Failure to thrive, Intrauterine growth retarda... OMIM:618005
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Kyphosis, Abnormal vertebral epiph... ORPHA:3121
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Clinodactyly, Anteverted nares, Micrognathia, Intrauterine growth retardation, Do... ORPHA:391408
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Wide nasal bridge, Recurrent p... OMIM:617303
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Overlapping toe, Micrognathia, Anal atresia, High palate, Broad nas... OMIM:613792
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Malar flatteni... ORPHA:261295
Meier-Gorlin Syndrome 8
Decreased body weight, Intrauterine growth retardation, Bilateral cryptorchidism OMIM:617564
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, He... OMIM:235200
Birk-Aharoni Syndrome
Micropenis, Failure to thrive, Cryptorchidism, Macrocytic anemia OMIM:620071
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased body weight, Short stature, Anal atresia, Mandibular prognat... ORPHA:93950
Familial Median Cleft Of The Upper And Lower Lips
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology ORPHA:401942
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Death in... OMIM:243150
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Hypogonadism, Cryptorchidism, Testicular seminoma, Short stature ORPHA:281090
Coffin-Siris Syndrome 8
Cryptorchidism, Failure to thrive OMIM:618362
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary aminois... OMIM:614105
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Postnatal growth retardation, Micrognathia, Short neck, Hi... OMIM:611209
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Antever... OMIM:619859
Meckel Syndrome, Type 8
Depressed nasal ridge, Hyperechogenic kidneys, Polydactyly, Short neck, Short nose, Polycystic ki... OMIM:613885
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Edinburgh Malformation Syndrome
Slender finger, Ulnar deviation of finger, Choanal atresia, Failure to thrive, Anteverted nares, ... ORPHA:1895
Warburg Micro Syndrome 3
Decreased muscle mass, Polymicrogyria, Postnatal growth retardation, Micrognathia, Kyphoscoliosis... OMIM:614222
Alazami-Yuan Syndrome
Short stature, Cryptorchidism OMIM:617126
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Scoliosi... OMIM:618577
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Anteverted nares, Micrognathia, Short neck,... ORPHA:93298
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Micrognathia, 3-Methylglutaconic aciduria, Delayed puberty, Hip dysplasia, Scoliosis, Mandibular ... ORPHA:496790
Lujan-Fryns Syndrome
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Arachno... ORPHA:776
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplas... OMIM:618165
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Dilatation of the renal pelvis, Joint contract... OMIM:600920
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Orthostatic Hypotension 1
Nasal congestion, Hypomagnesemia, Weakness of facial musculature, Brachydactyly, Increased blood ... OMIM:223360
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Hypoplasia of the maxilla, Recurrent upper respiratory tract infe... OMIM:300534
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
Potocki-Shaffer Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Wormian bones, 2-5 finger cutaneous syndactyly, Bra... OMIM:601224
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Failure to thrive, Short nose, Intrauterine growth retardation, Micrognat... OMIM:619833
3-Methylglutaconic Aciduria, Type V
Failure to thrive, Normochromic microcytic anemia, Decreased testicular size, Postnatal growth re... OMIM:610198
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:161950
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H... ORPHA:752
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Hallux valgus, Cone-shaped epiphyses of th... ORPHA:397973
Joubert Syndrome 10
Obesity, Frequent temper tantrums, Decreased body weight, Polyphagia, Short stature, Growth delay OMIM:300804
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Small for gestational age OMIM:618302
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Abnormal joint morphology, Fibular bowing, M... ORPHA:1427
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Anteverted nares, Epiphy... ORPHA:1914
Ophthalmomandibulomelic Dysplasia
Mesomelia, Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Fi... OMIM:164900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Coffin-Lowry Syndrome
Craniofacial hyperostosis, High palate, Short metacarpal, Wide nose, Hypoplasia of the maxilla, T... ORPHA:192
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... OMIM:271665
Tetrasomy 5P
Wide nasal bridge, Failure to thrive, Postnatal growth retardation, Overlapping toe, Micrognathia... ORPHA:3309
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Neonatal death, Radial head subluxation,... OMIM:146510
Mandibulofacial Dysostosis With Alopecia
Wide nasal bridge, Hypoplasia of the maxilla, Hydroureter, Micrognathia, Delayed eruption of prim... OMIM:616367
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Andersen-Tawil Syndrome
Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Renal hypoplasia, Growth delay, Bulbous... ORPHA:37553
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micrognathia, Short neck, ... OMIM:213980
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Mosaic Variegated Aneuploidy Syndrome 1
Depressed nasal bridge, Multicystic kidney dysplasia, Small for gestational age, Postnatal growth... OMIM:257300
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism ORPHA:363741
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Micrognathia, Multiple rib fractures, Short neck, Short n... ORPHA:93299
Intellectual Disability-Strabismus Syndrome
Depressed nasal bridge, Joint contracture of the hand, Failure to thrive, Recurrent otitis media,... ORPHA:363528
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Neonatal death OMIM:615524
Arthrogryposis, Distal, Type 1C
Short stature, Cryptorchidism, Decreased body weight OMIM:619110
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... OMIM:612702
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
Classic Galactosemia
Cryptorchidism, Hepatomegaly, Jaundice, Decreased fertility in females, Oligomenorrhea, Abnormal ... ORPHA:79239
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the... ORPHA:1540
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Type I diabetes mellitus, Short stature, Cryptorchidism ORPHA:1192
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Growt... OMIM:613987
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Severe short stature, Toe syndactyly, Short thumb, Anteriorly plac... ORPHA:2319
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Microcephaly 26, Primary, Autosomal Dominant
Wide nasal bridge, Recurrent pneumonia, Failure to thrive, Prominent nasal bridge, Protruding ton... OMIM:619179
Rudiger Syndrome
Micropenis, Death in infancy, Bicornuate uterus, Ovarian cyst OMIM:268650
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... OMIM:227270
Stuve-Wiedemann Syndrome 2
Neonatal death, Death in adolescence, Stillbirth, Camptodactyly, Dysphagia OMIM:619751
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Trisomy 4P
Short stature, Hypospadias, Cryptorchidism ORPHA:1738
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Hypoplasia of the maxilla, Failure to thrive, Micrognathia, E... OMIM:301108
Laurence-Moon Syndrome
Obesity, Type II diabetes mellitus, Cryptorchidism, Congenital hepatic fibrosis, Displacement of ... ORPHA:2377
Pfeiffer Syndrome
Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou... OMIM:101600
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Dental malocclusion, Clinoda... OMIM:616331
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Wagr Syndrome
Obesity, Cryptorchidism, Displacement of the urethral meatus, Ambiguous genitalia, Short stature ORPHA:893
Nabais Sa-De Vries Syndrome, Type 1
Depressed nasal bridge, Sacral dimple, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflu... OMIM:618828
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... OMIM:162000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failure to thrive OMIM:617872
Mmep Syndrome
Cryptorchidism ORPHA:3434
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short stature, Small for gestational age, Short nose OMIM:245570
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Platys... OMIM:300863
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Micrognathia, High palate, Dislocated radial head,... OMIM:210600
Cerebrofacioarticular Syndrome
Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, Anal stenosis, Caudal appendage, Renal... ORPHA:314679
8P23.1 Microdeletion Syndrome
Wide nasal bridge, Hypospadias, Broad thumb, Growth delay, Obesity, Micrognathia, Prominent nasal... ORPHA:251071
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Pachygyria, Bulbous nose, Hypoplasia of the maxilla, Subcortical band heterotopia OMIM:618737
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Abnorm... ORPHA:280356
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Failure to thrive, M... OMIM:620157
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Short neck, Apla... OMIM:108720
Mandibuloacral Dysplasia With Type B Lipodystrophy
Growth delay, Delayed cranial suture closure, Micrognathia, Stage 5 chronic kidney disease, Hyper... OMIM:608612
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
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