| 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 |
|
