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,  dwg,  Ggtp

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 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
Tremor 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
Coxa vara, Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scolio... OMIM:601344
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
46,Xx Gonadal Dysgenesis
Streak ovary, Arachnodactyly, Short stature, Osteopenia, Primary amenorrhea, Reduced bone mineral... ORPHA:243
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Osteopenia, Primary amenorrhea, Secondary amenorrhea, Increased fem... ORPHA:432
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... OMIM:614841
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Ring Chromosome Y Syndrome
Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
X-Linked Intellectual Disability, Van Esch Type
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Clinoda... ORPHA:163976
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Satoyoshi Syndrome
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ov... ORPHA:3130
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Clinodactyly of the 5th finger, Decreased serum testosterone concentration, Cr... ORPHA:163971
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619665
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... OMIM:601187
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Decreased serum testosterone concentration, Cryptorchidism, Small for gestatio... OMIM:300869
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... ORPHA:52901
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Osteopenia, Pr... ORPHA:2232
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... ORPHA:90796
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... OMIM:228300
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... ORPHA:453533
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Thick e... ORPHA:247768
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the testis size, Decreased serum testosterone concentration, E... ORPHA:99330
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga OMIM:601370
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage mat... ORPHA:2347
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... OMIM:614837
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Nuclear cataract, Small for gestational age, Hypergonadotrop... ORPHA:79237
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Reduced bone... ORPHA:2235
Estrogen Resistance
Glucose intolerance, Hypoplasia of the uterus, Hyperinsulinemia, Osteopenia, Primary amenorrhea, ... OMIM:615363
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... OMIM:619203
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... OMIM:308750
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Decreased circulating cortisol level, Ovarian cyst, Primary amenorrhea, Abnormal re... ORPHA:90793
Odontoid Hypoplasia
Atlantoaxial instability, Cervical instability, Dystopic os odontoideum, Hypoplasia of the odonto... OMIM:613628
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Synostosis of... ORPHA:2098
Patterson Pseudoleprechaunism Syndrome
Kyphoscoliosis, Palmoplantar cutis laxa, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, T... OMIM:169170
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Failure to thrive, Cataract, Aminoaciduria, Premature ovarian insufficiency ORPHA:2278
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus,... ORPHA:785
Diastrophic Dysplasia
Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical vertebrae, Talipes equinovarus, Lumbar hy... OMIM:222600
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Short 1st metacarpal, Metaphyseal widening, Broad femoral neck, S... OMIM:135100
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Abnormality of skin pigmentation, Cataract OMIM:300719
49,Xxxyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:261534
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:619613
Bardet-Biedl Syndrome
Generalized hirsutism, Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Pigmentary re... ORPHA:110
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... OMIM:614842
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... OMIM:271530
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... ORPHA:251623
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:614129
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Neoplasm of the pancreas, Hyperpigmented nevi, Decreased serum te... ORPHA:2959
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Premature ovarian insufficiency, Osteoscle... OMIM:609993
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Hypoplasia of the uterus, Alopecia, Short stature, Brachydactyl... OMIM:600705
Richieri Costa-Da Silva Syndrome
Distal lower limb muscle weakness, Beaking of vertebral bodies, Kyphoscoliosis, Genu valgum, Meta... ORPHA:3101
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Alopecia, Streak ovary OMIM:241090
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Hypopl... OMIM:263540
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Complete Androgen Insensitivity Syndrome
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... ORPHA:99429
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Woodhouse-Sakati Syndrome
Growth delay, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to... ORPHA:3464
Seckel Syndrome 7
Intrauterine growth retardation, Hypoplasia of the uterus, Severe short stature, Primary amenorrh... OMIM:614851
Opsismodysplasia
Hypoplastic vertebral bodies, Abnormally ossified vertebrae, Hypoplastic pubic bone, Brachydactyl... ORPHA:2746
Spastic Paraparesis And Deafness
Short stature, Cataract, Hypogonadism OMIM:312910
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Micropenis, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone con... OMIM:619761
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea, Short stature OMIM:617690
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Hypoplasia of th... OMIM:609441
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... ORPHA:1916
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Broad femoral neck, Short femoral neck, Genu varum, I... OMIM:609325
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Testicular atrophy, Generalized bronze hyperpigmentation, Decreased seru... ORPHA:465508
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spastic Paraparesis-Deafness Syndrome
Short stature, Cataract, Hypogonadism ORPHA:2815
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Recurrent tonsillitis, Hypopigmentation of the skin, ... OMIM:214450
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Squared-off platys... ORPHA:93352
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Aarskog-Scott Syndrome
Failure to thrive, Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism... OMIM:305400
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovar... OMIM:245190
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scoliosis, Abnor... ORPHA:168549
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Dysosteosclerosis
Irregular vertebral endplates, Hypoplastic vertebral bodies, Platyspondyly, Abnormal metaphysis m... ORPHA:1782
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Beaking of vertebral bodies, Hypoplastic verteb... OMIM:618641
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Microcornea, Sp... OMIM:110100
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Cataract, Premature ovarian insufficiency ORPHA:101006
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Short thumb OMIM:274205
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Hyperprolinemia, Type I
Hydroxyprolinuria, Prolinuria, Ataxia, Motor stereotypy, Hyperglycinuria, Hyperactivity OMIM:239500
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism ORPHA:1875
Dysosteosclerosis
Irregular vertebral endplates, Abnormal metaphyseal trabeculation, Short sternum, Hypoplastic ver... OMIM:224300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hemivertebrae, Brachydact... ORPHA:2916
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Multinucleated giant ch... OMIM:108720
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Female Infertility Due To Oocyte Meiotic Arrest
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis ORPHA:488191
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Short stature, Long thumb, Adrenal hypoplasia, Hyper... OMIM:619151
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... OMIM:132400
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility OMIM:261550
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Short nec... ORPHA:3144
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Oocyte Maturation Defect 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Enlarged polycystic ovaries, Pit... ORPHA:91348
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Shor... ORPHA:3085
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Opsismodysplasia
Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Short neck, Hypoplastic pubi... OMIM:258480
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, S... ORPHA:1988
Ane Syndrome
Hyperpigmented nevi, Decreased serum testosterone concentration, Decreased response to growth hor... ORPHA:157954
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... ORPHA:754
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... OMIM:301077
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Decreased serum testosterone concentration, Sparse hair, Micropenis, Hy... OMIM:241080
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... ORPHA:3000
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Short neck, Platyspondyly, Biconcave vertebral bodies, Upper limb ... ORPHA:93315
Metatropic Dysplasia
Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of finger, Microme... ORPHA:2635
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Dysplasia of the femoral head, Short ... ORPHA:94068
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Talipes equinovarus, Short tibia, Micrognathia, 11 pairs... OMIM:201170
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Aromatase Deficiency
Delayed epiphyseal ossification, Generalized hirsutism, Type II diabetes mellitus, Female inferti... ORPHA:91
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Short stature, Small hand, Hypogonadotropic hypogonadism, Hypopigmen... ORPHA:177910
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Insulin resistance, Obesity OMIM:615703
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Coxa vara, Hump-shaped mound of bone in central and posterior portions of... ORPHA:99642
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... ORPHA:1802
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Bra... ORPHA:2163
Kennerknecht syndrome
Abdominal obesity, Hypoplasia of the uterus, Toe clinodactyly, Short stature, Agonadism, Long eye... OMIM:600908
Saccharopinuria
Histidinuria, Citrullinuria, Spastic diplegia, Hyperlysinuria, Saccharopinuria OMIM:268700
Martsolf Syndrome 2
Overlapping toe, Decreased body weight, Short stature, Hypogonadotropic hypogonadism, Camptodacty... OMIM:619420
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Short stature OMIM:601076
Oocyte Maturation Defect 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte Maturation Defect 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Genu va... ORPHA:56304
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Upper limb spasticity, ... OMIM:611225
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Decreased serum testosterone concentration, Short stature, Paronychia, Decreas... OMIM:201100
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Sparse hair, Short stature, Osteoporosis, Hypothyroidism, Male hypogonadism, Abse... OMIM:618625
Diaminopentanuria
Hyperlysinuria, Cystinuria, Spasticity, Ataxia OMIM:222350
Atelosteogenesis Type Iii
Talipes equinovarus, Absent humerus, Hand clenching, Knee dislocation, Distal tapering femur, Sho... ORPHA:56305
Hypergonadotropic Hypogonadism-Cataract Syndrome
Short stature, Hypergonadotropic hypogonadism, Reduced bone mineral density, Primary amenorrhea, ... ORPHA:2410
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... ORPHA:572333
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Platyspondyly, Broad femoral nec... OMIM:615222
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Gm1-Gangliosidosis, Type Ii
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Limb undergr... OMIM:230600
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... OMIM:271650
Caudal Regression Syndrome
Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovarus, Abnormal verte... ORPHA:3027
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Coffin-Siris Syndrome 9
Short distal phalanx of finger, Sparse scalp hair, Hypertrichosis, Hypoplasia of the uterus, Hypo... OMIM:615866
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Delayed proximal femoral epiphyseal ossification, Ab... ORPHA:226307
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Hyperactivity, Small for gestational age, Cataract ORPHA:85288
Premature Ovarian Failure 19
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency OMIM:619245
Rothmund-Thomson Syndrome, Type 2
Sparse hair, Sparse eyebrow, Alopecia, Congenital hip dislocation, Microcornea, Cataract, Hypogon... OMIM:268400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... ORPHA:289548
Greenberg Dysplasia
Horizontal sacrum, Platyspondyly, 11 pairs of ribs, Micromelia, Rhizomelia, Tetraphocomelia, Frac... OMIM:215140
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... OMIM:202010
Acrodysostosis 1 With Or Without Hormone Resistance
Spinal canal stenosis, Dislocated radial head, Long hallux, Cone-shaped epiphyses of the phalange... OMIM:101800
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Dibasic Amino Aciduria I
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria OMIM:222690
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... ORPHA:1190
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... ORPHA:93314
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Bifid scrotum... OMIM:278850
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Platyspondyl... ORPHA:85172
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Erythrokeratodermia Variabilis
Corneal opacity, Generalized hirsutism, Hypermelanotic macule, Irregular hyperpigmentation, Alope... ORPHA:317
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Foot oligodactyly, Amelia, Short femur OMIM:601357
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Beaking of vertebral ... OMIM:607326
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spastic Paraplegia 46, Autosomal Recessive
Infertility, Kyphosis, Upper limb spasticity, Upper limb dysmetria, Ankle clonus, Knee clonus, Ba... OMIM:614409
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Sparse eyebrow, Small for gestational age, Short stature, Bifid distal ... OMIM:618419
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Brachydactyl... ORPHA:93333
Ovarian Fibrothecoma
Increased serum testosterone level, Hirsutism, Abnormal endometrium morphology, Metrorrhagia, Abn... ORPHA:314478
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Calcaneal epiphyseal stippling, Spinal canal stenosis, Butterfly ... ORPHA:79345
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Diastrophic Dysplasia
Kyphosis, Hypoplastic cervical vertebrae, Micrognathia, Camptodactyly of finger, Micromelia, Symp... ORPHA:628
Fibrochondrogenesis 1
Short palm, Wide anterior fontanel, Clinodactyly of the 5th finger, Narrow greater sciatic notch,... OMIM:228520
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Slender fi... OMIM:609813
Thanatophoric Dysplasia Type 1
Kyphosis, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, B... ORPHA:1860
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Autosomal Dominant Spastic Paraplegia Type 19
Female sexual dysfunction, Limb ataxia, Babinski sign, Urinary urgency, Difficulty walking, Progr... ORPHA:100999
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Alopecia, Decreased circulating cortisol level, Premature thelarche,... ORPHA:90795
Encephalopathy Due To Sulfite Oxidase Deficiency
Ataxia, Hemiplegia/hemiparesis, Aminoaciduria, Spasticity, Spastic tetraparesis, Ectopia lentis ORPHA:833
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:98754
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Advanced ossification of carpal bones, Kyphoscoliosis, Microretrog... OMIM:618363
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder, Alpha-aminoadipic aciduria OMIM:204750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperactive renin-angiotensin system, Premature fusion of the radial epiphyseal plates, Ambiguous... ORPHA:90794
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Short stature, Spina bifida o... OMIM:151100
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:98793
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral bowing, Anterior tibial b... OMIM:112350
Woolly Hair
Abnormality of hair texture, Abnormal pupil morphology, Woolly hair, Brittle hair, Sparse body ha... ORPHA:170
Valinemia
Failure to thrive, Hyperkinetic movements, Valinuria OMIM:277100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Galactose Epimerase Deficiency
Weight loss, Cataract, Aminoaciduria ORPHA:79238
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Short femur, Femoral bowing, Fractures of the long bones... OMIM:602080
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:177904
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Hypospadias, Cone-shaped epiphysis, Congenital hypothyroidism, Short phal... OMIM:614613
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Biconcave vertebra... OMIM:250215
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypoglycemia, Hypogonadism, Postnatal growth retardation, Central hypothyroidism OMIM:616113
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:177901
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... OMIM:211350
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Gait disturbance, Incoordination, Homocystinuria OMIM:236250
Hyperprolinemia, Type Ii
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:239510
Hypersecretion Of Adrenal Androgens, Familial
Amenorrhea, Hirsutism, Adrenal overactivity, Premature pubarche, Increased circulating androgen c... OMIM:145295
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Finger... ORPHA:8
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Scoliosis, Difficulty walking, Cataract, Spasticity OMIM:617393
Hypogonadotropic Hypogonadism 27 Without Anosmia
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... OMIM:619755
Renal Cysts And Diabetes Syndrome
Glucose intolerance, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced s... OMIM:137920
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Microcornea, Cataract, Hypogonadism, Growth delay ORPHA:2528
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Osteo... ORPHA:397685
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Aminoaciduria, Dysmetria, Myoclonus, Abnormality of the vertebral column, Abnormal verteb... OMIM:250620
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Acute Transverse Myelitis
Paraparesis, Urinary bladder sphincter dysfunction, Back pain, Priapism, Babinski sign, Gait dist... ORPHA:139417
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Meningioma
Amenorrhea, Enlarged pituitary gland, Impotence, Decreased serum testosterone concentration, Redu... ORPHA:2495
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Azoospermia, Low posterior ha... ORPHA:2578
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Abnormality of retinal pigmenta... ORPHA:791
Brachydactyly, Type B1
Wide anterior fontanel, Hypoplastic sacrum, Hemivertebrae, Syndactyly, Type B brachydactyly, Apla... OMIM:113000
Hartnup Disorder
Hypertonia, Neutral hyperaminoaciduria, Episodic ataxia OMIM:234500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Craniosynostosis, Decr... ORPHA:95699
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria OMIM:242600
Iminoglycinuria
Hydroxyprolinuria, Prolinuria, Hyperglycinuria ORPHA:42062
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Hypoplastic vertebral bodies, Flared iliac wing, Beaki... ORPHA:79255
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Hyper-Beta-Alaninemia
Failure to thrive, Increased urinary taurine OMIM:237400
Perineural Cyst
Infertility, Urinary bladder sphincter dysfunction, Impotence, Female sexual dysfunction, Dyspare... ORPHA:65250
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Cataract, Truncal obesity, Micropenis OMIM:610156
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Decreased serum testosterone concentration, A... ORPHA:325124
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radius, Short tibia, Sho... OMIM:607143
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Classic Galactosemia
Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Osteoporosis, Decreased fertili... ORPHA:79239
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Kyphoscoliosis, Small for gestational age, Cataract, Spasticity OMIM:212540
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Vertebral wedging, Flat capital femoral ep... ORPHA:1159
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Pigmentary retinopathy, Truncal obesity, Cataract, Hypogonadism, Moderately short... OMIM:268050
Ichthyosis, Split Hairs, And Amino Aciduria
Abnormal hair morphology, Aminoaciduria OMIM:242550
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Micrognathia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Short stature, Hypospadias, Ovotestis, Pigmentary ... OMIM:309801
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Non-Functioning Pituitary Adenoma
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... ORPHA:91349
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, Spasticity, ... OMIM:606777
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Prader-Willi-Like Syndrome
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:398073
Sialidosis Type 1
Kyphosis, Ataxia, Corneal opacity, Aminoaciduria, Urinary excretion of sialylated oligosaccharide... ORPHA:812
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration, Cataract OMIM:609195
Genitourinary And/Or Brain Malformation Syndrome
Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Streak ovary, Micropenis, Uterus dide... OMIM:618820
Galactosemia I
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Hypergonadotropic hypog... OMIM:230400
Post-Traumatic Pituitary Deficiency
Amenorrhea, Infertility, Growth delay, Abnormal prolactin level, Decreased response to growth hor... ORPHA:95619
Ataxia-Telangiectasia
Failure to thrive, Premature graying of hair, Type II diabetes mellitus, Multiple cafe-au-lait sp... ORPHA:100
Glycine Encephalopathy
Myoclonus, Hyperglycinuria, Lethargy, Hyperactivity OMIM:605899
Alg9-Cdg
Wide anterior fontanel, Hypoplasia of the ovary, Hypertrichosis, Bicornuate uterus, Narrow greate... ORPHA:79328
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Microcornea, Osteoporosis,... ORPHA:48431
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Hypoplasia of the ovary, Micropenis, Alopecia, Generalized hypopigmentation, S... OMIM:619321
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Short neck, Hypoplasia of the femoral h... OMIM:617396
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Failure to thrive, Inability to walk, Aminoaciduria, Methylmalonic aciduria, Hyperkinetic movemen... OMIM:612073
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Difficulty walking, Scoliosis OMIM:617087
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Infertility, Ataxia, Reduced sperm motility, Babinski sign, Abnormal pyramidal ... ORPHA:320391
Porphyria, Acute Hepatic
Failure to thrive, Elevated urinary delta-aminolevulinic acid, Paralysis, Respiratory paralysis OMIM:612740
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Hemochromatosis, Type 1
Amenorrhea, Glucose intolerance, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogo... OMIM:235200
Hypogonadism-Cataract Syndrome
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... OMIM:240950
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Osteopenia, Cone-shaped epiphysis, Clitoral hypoplasia, Hypoplastic pelvis, Rhizomel... OMIM:614813
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility ORPHA:481
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Ataxia, Impotence, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinski sign, Abn... ORPHA:98
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Short tibia, Micrognathia, Short neck, Micromelia, Olig... OMIM:251230
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Sim1-Related Prader-Willi-Like Syndrome
External genital hypoplasia, Osteopenia, Primary amenorrhea, Clitoral hypoplasia, Hypogonadism, S... ORPHA:398079
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Hypoplastic vertebral bodies, Thoracic scoliosis, Pes cavus, Short neck, Ov... OMIM:252940
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Aplasia/Hypoplasia involving bones of the thorax, Rhizomelic leg shortening, Postaxial polydactyl... ORPHA:397715
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Aminoaciduria, Cachexia, Gait ataxia, Proximal tubulopathy, Weight loss OMIM:612075
Priapism, Familial Idiopathic
Priapism OMIM:176620
Adenohypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95512
Scorpion Envenomation
Ketonuria, Ataxia, Priapism, Myoclonus, Glycosuria, Hyperkinetic movements, Hemifacial spasm, Myd... ORPHA:466677
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Stimmler Syndrome
Ataxia, Aminoaciduria ORPHA:3199
Myotonic Dystrophy 2
Type II diabetes mellitus, Frontal balding, Oligospermia, Posterior subcapsular cataract, Iridesc... OMIM:602668
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Hypoplastic pelvis, Hypoplastic vertebral bodies, Short neck OMIM:114620
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Narrow vertebral interpedicular d... ORPHA:280651
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Sparse hair, Short stature, Hypergonadotropic hypogonadism, Pigmentary reti... OMIM:268020
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Panhypophysitis
Amenorrhea, Adrenocorticotropic hormone deficiency, Impotence, Decreased serum testosterone conce... ORPHA:95513
Methylmalonic Aciduria And Homocystinuria, Cblx Type
Failure to thrive, Methylmalonic aciduria, Homocystinuria, Chorea, Athetosis OMIM:309541
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Adducted thumb, Short femur, Short ribs, Flared metaphysis, Micrognat... OMIM:616897
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Short stature, Brachydactyly, Iris coloboma, Cata... ORPHA:2377
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Multiple Sulfatase Deficiency
Broad hallux, Broad thumb, Hypoplastic vertebral bodies OMIM:272200
Sickle Cell Anemia
Renal insufficiency, Priapism, Hematuria OMIM:603903
Cofs Syndrome
Abnormality of retinal pigmentation, Short stature, Camptodactyly of finger, Cataract, Hypogonadi... ORPHA:1466
Arthrogryposis And Ectodermal Dysplasia
Nail dysplasia, Nuclear cataract, Absent eyebrow, Short stature, Trichiasis, Camptodactyly, Diabe... OMIM:601701
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal urinary acylglycine profile, Myoclonus, Rigidity, Gait dist... ORPHA:391417
1Q21.1 Microduplication Syndrome
Failure to thrive, Hypospadias, Cataract, Hip dislocation, Cryptorchidism, Hip dysplasia ORPHA:250994
Gm1-Gangliosidosis, Type I
Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Short neck, Scoliosis OMIM:230500
Mccune-Albright Syndrome
Abnormality of femur morphology, Abnormal endocrine physiology, Ovarian cyst, Increased circulati... ORPHA:562
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Hypertonia, Ataxia, Decreased urinary sulfate, Increased urinary sulfite, Choreoathet... OMIM:272300
Prader-Willi Syndrome
Hyperinsulinemia, External genital hypoplasia, Generalized hypopigmentation, Osteopenia, Primary ... OMIM:176270
Autosomal Dominant Spastic Paraplegia Type 12
Female sexual dysfunction, Limb ataxia, Babinski sign, Urinary urgency, Difficulty walking, Progr... ORPHA:100993
Borjeson-Forssman-Lehmann Syndrome
Short toe, Thick eyebrow, Hypoplasia of penis, Sparse hair, Abnormal hip bone morphology, Short s... ORPHA:127
Galactosemia Iii
Failure to thrive, Aminoaciduria, Galactosuria OMIM:230350
Gapo Syndrome
Amenorrhea, Growth delay, Dysmenorrhea, Sparse eyebrow, Alopecia, Sparse eyelashes, Early balding... ORPHA:2067
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
X-Linked Adrenoleukodystrophy
Paraparesis, Urinary bladder sphincter dysfunction, Impotence, Clumsiness, Hyperactivity, Hemipar... ORPHA:43
Prader-Willi Syndrome
Perisylvian polymicrogyria, Central adrenal insufficiency, External genital hypoplasia, Osteopeni... ORPHA:739
Homocarnosinosis
Spastic paraplegia, Carnosinuria OMIM:236130
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Short toe, Decreased body weight, External genital hypoplasia, Short stature, Cataract, Postnatal... OMIM:612947
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Short neck, Scoliosis, Genu valgum, Short foot,... ORPHA:314795
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Opacification of the corneal stroma, Secondary amen... ORPHA:1643
Tibial Hemimelia
Absent tibia OMIM:275220
Cataract 17, Multiple Types
Pulverulent cataract, Developmental cataract, Nuclear cataract, Microcornea OMIM:611544
Adrenoleukodystrophy
Paraparesis, Urinary bladder sphincter dysfunction, Impotence, Limb ataxia, Alopecia, Truncal ata... OMIM:300100
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Ovarian Dysgenesis 3
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... OMIM:614324
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Hoffmann sign, Babinski sign, Tetraparesis, Fre... ORPHA:206448
3-Hydroxyisobutyric Aciduria
Failure to thrive, Aminoaciduria OMIM:236795
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Hirsutism, Decreased serum testosterone concentration, Low anterior hairline, Sp... ORPHA:495875
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... ORPHA:2634
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Kyphosis, Ataxia, Lumbar hyperlordosis, Inability to walk, Scoliosis, Waddling ... OMIM:616756
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... OMIM:601559
Camptodactyly-Taurinuria Syndrome
Increased urinary taurine, Aminoaciduria ORPHA:1325
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamu... ORPHA:2183
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Cataract-Intellectual Disability-Hypogonadism Syndrome
Short stature, Hypogonadotropic hypogonadism, Ulnar deviation of finger, Abnormal distal phalanx ... ORPHA:1387
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Failure to thrive, Kyphosis, Ataxia, Attention deficit hyperactivity disorder, Tongue fasciculations OMIM:620007
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Scoliosis, Paralysis OMIM:605285
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair, Short stature ORPHA:1355
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
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Micrognat... OMIM:108721
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... ORPHA:399805
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Intrauterine growth retardation, Short metacarpal, Short thumb ORPHA:2489
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Fragile X Tremor/Ataxia Syndrome
Action tremor, Impotence, Poor fine motor coordination, Dysmetria, Resting tremor, Intention trem... OMIM:300623
Threoninemia
Hyperthreoninuria OMIM:273770
Rabson-Mendenhall Syndrome
Hypertrichosis, Long penis, Clitoral hypertrophy, Intrauterine growth retardation, Precocious pub... ORPHA:769
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Glutathione Synthetase Deficiency
Intention tremor, Ataxia, Increased level of L-pyroglutamic acid in urine, Spastic tetraparesis OMIM:266130
Flynn-Aird Syndrome
Increased bone mineral density, Alopecia, Osteoporosis, Cataract, Increased bone density with cys... OMIM:136300
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Variegate Porphyria
Porphyrinuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Par... OMIM:176200
Galactosemia
Failure to thrive, Reduced bone mineral density, Oligomenorrhea, Primary amenorrhea, Secondary am... ORPHA:352
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Homozygous 11P15-P14 Deletion Syndrome
Renal tubular dysfunction, Generalized aminoaciduria, Failure to thrive OMIM:606528
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Neuronopathy, Distal Hereditary Motor, Type Iib