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Gene: Ggt1 MGI:95706

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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:
gamma-glutamyltransferase 1
Synonyms:
CD224,  GGT,  Ggtp,  dwg

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 Ggt1 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.

The table below shows human diseases associated to Ggt1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glutathionuria
Action tremor, Tremor, Glutathionuria, Urinary incontinence, Dysdiadochokinesis OMIM:231950

The table below shows human diseases predicted to be associated to Ggt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Dysplasia, Anhalt Type
Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s... OMIM:601344
Spondylometaphyseal Dysplasia, Corner Fracture Type
Metaphyseal irregularity, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture... OMIM:184255
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... ORPHA:432
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Osteopenia, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonad... ORPHA:243
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte... ORPHA:163976
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Satoyoshi Syndrome
Alopecia universalis, Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of th... ORPHA:3130
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Male hypogonadism, Small hand, Small nail, Failure to thrive, Absence o... ORPHA:163971
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidi... OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Gurrieri Syndrome
Hypoplastic iliac wing, Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar ver... OMIM:601187
Chromosome Xq27.3-Q28 Duplication Syndrome
Small hand, Sparse body hair, Hypogonadism, Decreased testicular size, Decreased serum testostero... OMIM:300869
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Epiphyseal dysplasia, Arthralgia of the hip, Broad femoral neck, Flared femoral me... OMIM:609324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... ORPHA:2232
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... ORPHA:52901
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... ORPHA:453533
Acromesomelic Dysplasia 2A
Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibular synostosis, A... OMIM:200700
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Sparse pubic hair, Decreased serum testosterone concentration, Decreased testicula... OMIM:308700
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis, Primar... OMIM:615300
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Short thumb, Rad... OMIM:201250
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
49,Xyyyy Syndrome
Short 5th finger, Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreas... ORPHA:99330
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Holoprosencephaly, Semilobar, With Craniosynostosis
Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga OMIM:601370
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo... ORPHA:2347
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Kallmann Syndrome With Spastic Paraplegia
Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cry... OMIM:308750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Short tibia, Abnormality of the vertebral column, Short toe, ... OMIM:112910
Galactokinase Deficiency
Cataract, Nuclear cataract, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Premature ovarian ... ORPHA:79237
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Mic... OMIM:602557
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris... ORPHA:2235
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Odontoid Hypoplasia
Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial instability, Dystopic os o... OMIM:613628
Langer Mesomelic Dysplasia
Short tibia, Rudimentary fibula, Radial bowing, Rhizomelic arm shortening, Lumbar hyperlordosis, ... OMIM:249700
Estrogen Resistance
Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Pol... OMIM:615363
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Aminoaciduria, Premature ovarian insufficiency, Failure to thrive, Cataract ORPHA:2278
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... OMIM:620651
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp... ORPHA:785
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio... OMIM:222600
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Decreased serum testoster... ORPHA:261534
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Abnormality of skin pigmentation, Infertility OMIM:300719
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Fibrodysplasia Ossificans Progressiva
Short 1st metacarpal, Broad femoral neck, Small cervical vertebral bodies, Progressive cervical v... OMIM:135100
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short toe, Short tibia, Radial bowing, Abnormal metatarsal morp... OMIM:127300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor... ORPHA:1772
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short thumb, Short tibia, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Progeria-Short Stature-Pigmented Nevi Syndrome
Generalized osteoporosis, Short distal phalanx of finger, Cataract, Band keratopathy, Decreased s... ORPHA:2959
Satoyoshi Syndrome
Alopecia universalis, Alopecia, Genu valgum, Amenorrhea, Osteolytic defects of the phalanges of t... OMIM:600705
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle... OMIM:609993
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Richieri Costa-Da Silva Syndrome
Vertebral wedging, Decreased anterioposterior diameter of lumbar vertebral bodies, Genu valgum, K... ORPHA:3101
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Aniridia, Streak ovary, Obesity, Cryptorch... OMIM:194072
Seckel Syndrome 7
Severe short stature, Central hypothyroidism, Intrauterine growth retardation, Primary amenorrhea... OMIM:614851
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Intrauterine growth retardation, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, ... OMIM:619761
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregu... ORPHA:93352
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Decreased r... ORPHA:3464
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ... ORPHA:99429
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas... ORPHA:2746
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Hyperprolinemia, Type I
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Aggressive behavior, Hyperactivity, Ataxia, Motor... OMIM:239500
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Aarskog-Scott Syndrome
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... OMIM:305400
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Decreased libido, Abnormal metacarpoph... ORPHA:465508
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... OMIM:609441
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Double-layered patella, Hypoplasia of the femoral head, Talipes equinovarus... OMIM:226900
Fibular Hemimelia
Toe syndactyly, Short tibia, Finger syndactyly, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Short stature OMIM:312910
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio... OMIM:214450
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Dysosteosclerosis
Platyspondyly, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, Abnormal metap... ORPHA:1782
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Spastic Paraparesis-Deafness Syndrome
Hypogonadism, Cataract, Short stature ORPHA:2815
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency, Cataract ORPHA:101006
Infantile Liver Failure Syndrome 3
Platyspondyly, Abnormality of the epiphysis of the femoral head, Abnormal acetabulum morphology, ... OMIM:618641
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,... OMIM:619177
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Opsismodysplasia
Hypoplastic ischia, Rhizomelia, Hypoplasia of the odontoid process, Metaphyseal cupping, Hypoplas... OMIM:258480
Atelosteogenesis, Type I
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Short neck, Aplasia/H... OMIM:108720
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Saccharopinuria
Saccharopinuria, Histidinuria, Hyperlysinuria, Elevated urinary saccharopine level, Citrullinuria... OMIM:268700
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Fibula... ORPHA:3144
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Coxa valga OMIM:271620
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Hartnup Disorder
Neutral hyperaminoaciduria, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactiv... OMIM:234500
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb, Cryptorchidism OMIM:274205
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Highly arched eyebrow, Microcornea, Sparse pubic hair, Female infertility... OMIM:110100
Dysosteosclerosis
Platyspondyly, Short diaphyses, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, ... OMIM:224300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Hypo... ORPHA:2916
Ane Syndrome
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... ORPHA:157954
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Gait disturbance, Lower limb ... OMIM:611225
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Amed Syndrome, Digenic
Failure to thrive, Long thumb, Hyperpigmentation of the skin, Adrenal hypoplasia, Short stature, ... OMIM:619151
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... ORPHA:91348
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... OMIM:132400
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Cutaneous syndactyly of toes, Short middle phalanx o... OMIM:619217
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones, Flattened ... OMIM:271530
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:3085
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Woodhouse-Sakati Syndrome
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... OMIM:241080
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Aplasia/hypoplasia involving bones of the extremities, Kyphosis, Upper limb underg... ORPHA:94068
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Micromelia, Coarse metaphy... ORPHA:2635
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Flattened femoral head, Hump-shaped mound of bone in central and posterior portion... ORPHA:99642
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, 11 pairs of ribs, Micrognathia, Overlapping toe, Fibular... OMIM:201170
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Hypoplastic cervical vertebrae, Knee dislocation, Small epiphyses, Lumbar scoliosis, Adducted thu... OMIM:620269
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, External genital hypoplasia, Obe... ORPHA:177910
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo... OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Short 4th finger,... ORPHA:2756
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ... ORPHA:2163
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Oligozoospermia, Macroorchidism, Male i... ORPHA:3000
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal tibia mor... ORPHA:1802
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... OMIM:201100
Aromatase Deficiency
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Female infertility, Male inferti... ORPHA:91
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
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Short neck, Bro... ORPHA:56304
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
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
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubu... ORPHA:56305
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
Dibasic Amino Aciduria I
Ornithinuria, Hyperlysinuria, Dibasicaminoaciduria, Argininuria OMIM:222690
Diaminopentanuria
Hyperlysinuria, Cystinuria, Spasticity, Ataxia OMIM:222350
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Abnormal anterior chamber morphology, Abnormality of... ORPHA:42665
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Cataract, Absence of secondary sex characteristics, Decrease... ORPHA:2410
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Hypoplast... ORPHA:3027
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... ORPHA:79106
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Nail dystrophy, Premature ovarian insufficiency, Juvenile cataract, Absent eye... OMIM:618625
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Hypoplastic vertebral bodies, Beaking of vertebral bodies,... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Kyphosis, Hirsutism, Hyperactivity, Small for gestational age ORPHA:85288
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... OMIM:271630
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Highly arched eyebrow, Growth delay, Clinodactyly, Hypertrichosis... OMIM:615866
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Glycine Encephalopathy 1
Hyperglycinuria, Myoclonus, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... OMIM:101800
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Cataract ORPHA:1875
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... ORPHA:1190
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Hypo... OMIM:154230
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Achondroplasia
Rhizomelia, Radial bowing, Short femoral neck, Flared metaphysis, Lumbar hyperlordosis, Femoral b... OMIM:100800
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Rothmund-Thomson Syndrome, Type 2
Small hand, Premature graying of hair, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent... OMIM:268400
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometrocolpos, Type II diabetes m... ORPHA:110
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Atlantoaxial i... ORPHA:79345
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:98754
Manganese Poisoning
Decreased male libido, Akinesia, Inappropriate laughter, Decreased female libido, Cogwheel rigidi... ORPHA:306682
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Brea... ORPHA:3044
Phenylketonuria
Cataract, Elevated urinary gamma-glutamylphenylalanine level, Fair hair, Increased level of hippu... OMIM:261600
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Diastrophic Dysplasia
Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,... ORPHA:628
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Female sexual dysfunction, Progressive spastic paraplegia, Difficulty wa... ORPHA:100999
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Fibrochondrogenesis 1
Platyspondyly, Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones... OMIM:228520
Hyperprolinemia, Type Ii
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Elevated urinary pyrroline hydroxycarboxylic acid... OMIM:239510
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Spastic Paraplegia 46, Autosomal Recessive
Cataract, Spastic paraplegia, Urinary incontinence, Hand tremor, Head tremor, Limb dysmetria, Upp... OMIM:614409
Hyperlysinemia, Type I
Hyperlysinuria, Dysdiadochokinesis, Ectopia lentis, Clumsiness, Cystinuria, Hyperactivity, Ornith... OMIM:238700
Erythrokeratodermia Variabilis
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... ORPHA:317
Gm1 Gangliosidosis Type 1
Platyspondyly, Beaking of vertebral bodies T12-L3, Broad long bone diaphyses, Acetabular dysplasi... ORPHA:79255
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Small hand, Hypoplasia of the odontoid process, Talipes equinovarus, Irregularity ... ORPHA:85172
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Intervertebral space narrowing, Reduced proximal interphalangeal joint space, Pedal ... ORPHA:166011
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:98793
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Sparse pubic hair, S... OMIM:618419
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre... OMIM:184252
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:177904
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal s... ORPHA:1860
Encephalopathy Due To Sulfite Oxidase Deficiency
Aminoaciduria, Spasticity, Ectopia lentis, Hemiplegia/hemiparesis, Ataxia, Spastic tetraparesis ORPHA:833
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Radial bowing, Finger syndactyly, Clinodactyly, Hy... OMIM:228930
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum... ORPHA:93333
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... ORPHA:177901
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria, Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thr... OMIM:250620
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... OMIM:602080
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Fair hair, Congenital hypothyroidism, Obesity, Intrauterine growth retarda... OMIM:614613
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Metaphyseal irregularity, Hypoplasia of the odontoid process, Clinodactyly, Genu v... OMIM:184250
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Amelia, Short femur OMIM:601357
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Squared iliac bones, Scoliosis, Kyphos... OMIM:112350
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Kyphomelic Dysplasia
Platyspondyly, Micromelia, Radial bowing, Flared metaphysis, Dumbbell-shaped humerus, Micrognathi... OMIM:211350
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Weight loss ORPHA:79238
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... OMIM:620076
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Gait ataxia, Obsessive-compulsive trait, Dysmetria, Disinhibitio... OMIM:300623
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Aplasia/Hypoplasia of the ulna, Split hand, Aplasia... OMIM:119100
X-Linked Adrenoleukodystrophy
Progressive spastic paraparesis, Incoordination, Urinary bladder sphincter dysfunction, Disinhibi... ORPHA:43
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Broad femoral neck, Genu valgum, Enlarged inte... OMIM:615222
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Incoordination, Homocystinuria, Gait disturbance OMIM:236250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ne... ORPHA:90794
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 17
Male infertility OMIM:617214
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, 2-hydroxyadipic aciduria, Alpha-aminoadipic aciduria OMIM:204750
Valinemia
Hyperkinetic movements, Failure to thrive, Valinuria OMIM:277100
Acute Transverse Myelitis
Urinary incontinence, Spasticity, Urinary retention, Priapism, Urinary bladder sphincter dysfunct... ORPHA:139417
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior hairline, Short stature, Bicornuate ... ORPHA:2578
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Hypogonadism, Short stature, Growth delay ORPHA:2528
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Spasticity, Difficulty walking, Gait ataxia, Dysmetria, Babinski sign, Abnormal pyramidal sign, L... ORPHA:98
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema... ORPHA:397685
Brachydactyly, Type B1
Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Cutaneou... OMIM:113000
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial i... OMIM:607326
Leopard Syndrome 1
Multiple lentigines, Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ov... OMIM:151100
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Glycosuria, Elevated circulating cre... OMIM:137920
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Lethargy, Paralysis, Atax... OMIM:606777
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari... ORPHA:95619
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria OMIM:242600
Iminoglycinuria
Hyperglycinuria, Prolinuria, Hydroxyprolinuria ORPHA:42062
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... OMIM:619755
47,Xyy Syndrome
Varicocele, Finger clinodactyly, Azoospermia, Cryptorchidism, Reduced social reciprocity, Micrope... ORPHA:8
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Linear Skin Defects With Multiple Congenital Anomalies 1
Iris coloboma, Clitoral hypertrophy, Cataract, Peters anomaly, Pigmentary retinopathy, Ovotestis,... OMIM:309801
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu... OMIM:300200
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
Classic Galactosemia
Cataract, Hypoglycemia, Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased... ORPHA:79239
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Overlapping toe, Decreased body weight, Hypogonadotropic hypog... OMIM:619420
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Short neck, Hypoplastic il... OMIM:617396
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria, Abnormal hair morphology OMIM:242550
Trichomegaly
Cataract, Long eyelashes OMIM:190330
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Meningioma
Secondary growth hormone deficiency, Impotence, Decreased serum estradiol, Hypothalamic hypothyro... ORPHA:2495
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Spasticity, Premature ovarian insufficiency, Unsteady gait, Secondary amenorrhea OMIM:620312
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Scorpion Envenomation
Mydriasis, Acute kidney injury, Ketonuria, Glycosuria, Priapism, Hemifacial spasm, Myoclonus, Tre... ORPHA:466677
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Small cervical vertebral bodies, Cervical spinal canal stenosis, Twelfth r... ORPHA:397715
Ivic Syndrome
Absent thumb, Short thumb, Short 1st metacarpal, Upper limb undergrowth, Carpal synostosis, Preax... OMIM:147750
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Genu valgum, Beaking of vertebral bodies, Abnormality of the knee, Tho... ORPHA:1159
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Type II diabetes ... ORPHA:100
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction, Cataplexy, Obesity, Restless legs, Attention ... ORPHA:2073
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora... ORPHA:93284
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Sialidosis Type 1
Aminoaciduria, Cataract, Abnormal form of the vertebral bodies, Urinary excretion of sialylated o... ORPHA:812
Hypogonadism-Cataract Syndrome
Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone leve... OMIM:240950
Hypochondroplasia
Flared metaphysis, Lumbar hyperlordosis, Trident hand, Aplasia/hypoplasia of the extremities, Bra... OMIM:146000
Hsd10 Disease
Spastic paraparesis, Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile... ORPHA:391417
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Polymicrogyria, Streak ovary, Gray ma... OMIM:618820
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis, Fine hair, Sulfocysteinuria, Hemiplegia, Decreased urinary sulfate, Hypertonia, A... OMIM:272300
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Elevated urinary delta-aminolevulinic acid, Failure to thrive OMIM:612740
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Posterior capsular cataract OMIM:609195
Autosomal Recessive Spastic Paraplegia Type 46
Ataxia, Cataract, Broad-based gait, Difficulty walking, Infertility, Head tremor, Truncal ataxia,... ORPHA:320391
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small ep... OMIM:608728
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Tip-toe gait, Gait disturbance, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphos... OMIM:617404
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Multiple Sulfatase Deficiency
Hypoplastic vertebral bodies, Broad thumb, Broad hallux OMIM:272200
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Alg9-Cdg
Rhizomelia, Flared metaphysis, Hypertrichosis, Low posterior hairline, Hypoplastic nipples, Narro... ORPHA:79328
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Small hand, Central adrenal insufficiency, Cryptorchidism, H... ORPHA:739
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Meckel Syndrome 12
Intrauterine growth retardation, Antecubital pterygium, Vaginal atresia, Hypoplasia of the uterus... OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive
Intrauterine growth retardation, Microlissencephaly, Vaginal atresia, Hypoplasia of the uterus, S... OMIM:617914
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Short nec... OMIM:616897
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Small hand, Absence of pubertal development, Type II diabete... ORPHA:398079
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Decreased testicular size, Intrauterine growth retardation, Genu valgum, Hypoplasia of ... OMIM:619321
Galactosemia I
Aminoaciduria, Cataract, Galactosuria, Failure to thrive, Increased level of galactitol in urine,... OMIM:230400
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Cataract 2, Multiple Types
Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c... OMIM:604307
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Increased level of gamma-aminobutyric acid in urine, Hyperkinetic moveme... OMIM:271980
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
1Q21.1 Microduplication Syndrome
Cataract, Failure to thrive, Cryptorchidism, Hip dysplasia, Hypospadias, Hip dislocation ORPHA:250994
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism
Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Subcapsular cataract, Polycystic ova... OMIM:268020
Hemochromatosis, Type 1
Alopecia, Azoospermia, Glucose intolerance, Hypogonadotropic hypogonadism, Amenorrhea, Hyperpigme... OMIM:235200
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Elevated circulating luteinizing hormone level, Small hand, Premature graying of hair, ... OMIM:300845
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Male sexual dysfunction, Female sexual dysfunction, Progressive spastic par... ORPHA:100993
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Myotonic Dystrophy 2
Posterior subcapsular cataract, Frontal balding, Insulin insensitivity, Hypogonadism, Type II dia... OMIM:602668
Stimmler Syndrome
Aminoaciduria, Ataxia ORPHA:3199
Kennedy Disease
Testicular atrophy, Gait disturbance, Decreased fertility, Erectile dysfunction ORPHA:481
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Azoospermia, Syndactyly OMIM:241000
Severe Canavan Disease
Spasticity, Oral-pharyngeal dysphagia, Inability to walk, Babinski sign, Lethargy, Elevated urine... ORPHA:314911
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Clinodactyly, Abnormal fema... ORPHA:95699
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Pes cavus, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodie... OMIM:252940
Cofs Syndrome
Cataract, Camptodactyly of finger, Hypogonadism, Intrauterine growth retardation, Abnormality of ... ORPHA:1466
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Cho... ORPHA:71277
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Low posterior hairline, Short 4th metacarpal, Sparse facial hair, Short sta... ORPHA:2183
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Laurence-Moon Syndrome
Cataract, Finger syndactyly, Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of ... ORPHA:2377
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Tongue fasciculations, Failure to thrive, Attention deficit hyperactivity disorder, Ataxia, Kyphosis OMIM:620007
Cataract 42
Cataract, Developmental cataract OMIM:115900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small hand, Clinodactyly, Small nail, Oligozoospermia, Sparse hair, Short foot, Short metacarpal,... OMIM:614813
Adrenoleukodystrophy
Spastic paraplegia, Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Incoordination... OMIM:300100
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Gm1-Gangliosidosis, Type I
Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis, Kyphosis OMIM:230500
Sickle Cell Disease
Hematuria, Renal insufficiency, Priapism OMIM:603903
Tibial Hemimelia
Absent tibia OMIM:275220
Osteogenesis Imperfecta, Type X
Platyspondyly, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, ... OMIM:613848
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo... ORPHA:314478
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Short neck... OMIM:601559
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Cataract 17, Multiple Types
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract OMIM:611544
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Hip dislo... OMIM:268305
Atelosteogenesis, Type Iii
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Kn... OMIM:108721
Shox-Related Short Stature
Micrognathia, Genu valgum, Lower limb undergrowth, Tibial bowing, Ulnar radial head dislocation, ... ORPHA:314795
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Absent s... ORPHA:495875
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive OMIM:230350
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Borjeson-Forssman-Lehmann Syndrome
Small scrotum, Cataract, Short toe, Hypogonadism, Decreased testicular size, Abnormal hip bone mo... ORPHA:127
Cataract-Intellectual Disability-Hypogonadism Syndrome
Cataract, Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Cryptorchidism... ORPHA:1387
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Chorea, Athetosis, Choreoathetosis OMIM:309541
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Inability to walk, Lumbar hyperlordosis, Obesity, Lower limb spasticity, Ataxia... OMIM:616756
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Hypoglycemia, Intrauterine growth retardation, Hypogonadotropic hypogonadi... ORPHA:48431
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract, Camptodactyly of finger, Bone cyst, Camptodactyly of toe, Coxa vara, Osteoporos... ORPHA:2848
Adult Krabbe Disease
Urinary incontinence, Broad-based gait, Spasticity, Tetraparesis, Frequent falls, Progressive spa... ORPHA:206448
Camptodactyly-Taurinuria Syndrome
Aminoaciduria, Increased urinary taurine ORPHA:1325
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Kyphosis, Decreased body weight, Small for gestational age, Waddling gait OMIM:618392
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Failure to thrive OMIM:236795
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Short tibia, Synostosis of carpal bones, Finger synda... ORPHA:1106
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nuclear cataract, Nail dysplasia, Trichodysplasia, Absent eyebrow, Short stature, Cam... OMIM:601701
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal tibia morphology,... ORPHA:2639