Spinal Dysplasia, Anhalt Type |
|
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Osteoarthritis of the ... |
OMIM:601344 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... |
OMIM:184255 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, P... |
OMIM:619598 |
46,Xx Gonadal Dysgenesis |
|
Primary amenorrhea, Osteopenia, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Spar... |
ORPHA:243 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... |
OMIM:118651 |
Metaphyseal Anadysplasia 2 |
|
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck |
OMIM:613073 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Primary amenorrhea, Cryptorchidism, Osteoporosis, Impotence, Male hypogonadism, Absence of pubert... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Cryptorchidism, Micropenis,... |
OMIM:614841 |
Ring Chromosome Y Syndrome |
|
Abnormality of the female genitalia, Abnormality of the male genitalia, Cryptorchidism, Streak ov... |
ORPHA:261529 |
Syndactyly Type 4 |
|
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
Ovarian Dysgenesis 2 |
|
Primary amenorrhea, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus... |
OMIM:300510 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus |
OMIM:600121 |
Satoyoshi Syndrome |
|
Genu varum, Abnormal hip bone morphology, Amenorrhea, Abnormality of epiphysis morphology, Abnorm... |
ORPHA:3130 |
Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... |
OMIM:607778 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... |
ORPHA:52901 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
X-Linked Intellectual Disability, Van Esch Type |
|
Impaired social interactions, Intrauterine growth retardation, Coronal craniosynostosis, Cryptorc... |
ORPHA:163976 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... |
ORPHA:168563 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... |
OMIM:619665 |
Tibial Torsion, Bilateral Medial |
|
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology |
OMIM:188800 |
X-Linked Intellectual Disability, Cilliers Type |
|
Small nail, Coronal craniosynostosis, Cryptorchidism, Clinodactyly of the 5th finger, Decreased s... |
ORPHA:163971 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Decreased serum testo... |
OMIM:300869 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... |
OMIM:602557 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Hypoplast... |
OMIM:601187 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... |
ORPHA:90796 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... |
OMIM:609324 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Osteoporosis, Impoten... |
ORPHA:2232 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... |
OMIM:601376 |
Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619326 |
Perrault Syndrome 4 |
|
Primary amenorrhea, Obesity, Decreased serum estradiol, Osteoporosis, Bicornuate uterus, Secondar... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... |
OMIM:229070 |
46,Xy Partial Gonadal Dysgenesis |
|
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... |
ORPHA:251510 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Small for gestational age, Cataract, Failure to thrive, Nuclear c... |
ORPHA:79237 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... |
OMIM:228300 |
Acromesomelic Dysplasia 2A |
|
Acromesomelia, Pes valgus, Hypoplasia of the ulna, Valgus hand deformity, Fibular hypoplasia, Sho... |
OMIM:200700 |
Müllerian Aplasia And Hyperandrogenism |
|
Brachydactyly, Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, ... |
ORPHA:247768 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... |
ORPHA:179494 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... |
ORPHA:453533 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Platysp... |
OMIM:617719 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Developmental cataract, Abnormality of the testis size, Azoospermi... |
ORPHA:99330 |
Premature Ovarian Failure 7 |
|
Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary ... |
OMIM:612964 |
Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... |
OMIM:201250 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Osteopenia, Azoosperm... |
OMIM:614837 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:2235 |
Osebold-Remondini Syndrome |
|
Abnormality of the vertebral column, Broad toe, Hypoplasia of the ulna, Bipartite calcaneus, Carp... |
OMIM:112910 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Short distal phalanx of finger, Coxa valga, Hypoplastic vertebral bodies |
OMIM:601370 |
Premature Ovarian Failure 18 |
|
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... |
OMIM:619203 |
Estrogen Resistance |
|
Osteopenia, Primary amenorrhea, Hyperinsulinemia, Impaired glucose tolerance, Glucose intolerance... |
OMIM:615363 |
Lethal Kniest-Like Dysplasia |
|
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pla... |
ORPHA:2347 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
Langer Mesomelic Dysplasia |
|
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Broad u... |
OMIM:249700 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Absent pubic hair, Ele... |
ORPHA:90793 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Cataract, Decreased serum testosterone concentration |
ORPHA:101006 |
Premature Ovarian Failure 10 |
|
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... |
OMIM:612885 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... |
OMIM:612310 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... |
OMIM:618841 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... |
OMIM:601560 |
Patterson Pseudoleprechaunism Syndrome |
|
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Long foot, Short long bone, Talip... |
OMIM:169170 |
Odontoid Hypoplasia |
|
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... |
OMIM:613628 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... |
OMIM:147891 |
Acromesomelic Dysplasia, Grebe Type |
|
Brachydactyly, Synostosis of carpal bones, Bowing of the long bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
Estrogen Resistance Syndrome |
|
Abnormal circulating hormone concentration, Primary amenorrhea, Osteopenia, Hyperinsulinemia, Ost... |
ORPHA:785 |
Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
46,Xy Sex Reversal 11 |
|
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... |
OMIM:273250 |
Diastrophic Dysplasia |
|
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Hitchhiker thumb, Hypoplastic cervic... |
OMIM:222600 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly |
OMIM:246570 |
Leydig Cell Hypoplasia |
|
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... |
ORPHA:755 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Abnormality of skin pigmentation, Infertility |
OMIM:300719 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... |
OMIM:135100 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... |
ORPHA:261534 |
Premature Ovarian Failure 8 |
|
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... |
OMIM:615723 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication |
OMIM:188740 |
Spondylometaphyseal Dysplasia, East African Type |
|
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... |
OMIM:611702 |
Perrault Syndrome 6 |
|
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... |
OMIM:617565 |
Partial Chromosome Y Deletion |
|
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... |
ORPHA:1646 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Brachydactyly, Band keratopathy, Generalized osteoporosis, Osteopenia, Delayed puberty, Small for... |
ORPHA:2959 |
Bardet-Biedl Syndrome |
|
Generalized hirsutism, Finger syndactyly, Cryptorchidism, Obesity, Hypoplasia of penis, Pigmentar... |
ORPHA:110 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Gollop-Wolfgang Complex |
|
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
Premature Ovarian Failure 5 |
|
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... |
OMIM:611548 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... |
ORPHA:90791 |
Pituicytoma |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... |
ORPHA:251623 |
Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... |
OMIM:127300 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Nail dysplasia, Male infertility, Bilateral c... |
ORPHA:1772 |
Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... |
ORPHA:1972 |
Perrault Syndrome 3 |
|
Short stature, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Cataract, Aminoaciduria, Premature ovarian insufficiency |
ORPHA:2278 |
Frasier Syndrome |
|
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... |
ORPHA:347 |
Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Short neck, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... |
OMIM:271530 |
Spermatogenic Failure 63 |
|
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size |
OMIM:619689 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
Satoyoshi Syndrome |
|
Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Alo... |
OMIM:600705 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... |
OMIM:619712 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Short tibia, Talipes equinoval... |
OMIM:605274 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... |
ORPHA:93356 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary, Alopecia |
OMIM:241090 |
Richieri Costa-Da Silva Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Vertebral wedging, Beaking of ver... |
ORPHA:3101 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Cryptorchidism, Abnormal vagina morphology, Obesity, Gonadoblastoma, Abnormality of the uterus, A... |
OMIM:194072 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Premature ovarian insufficiency, Subperiosteal bone form... |
OMIM:609993 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... |
OMIM:619515 |
Seckel Syndrome 7 |
|
Clinodactyly, Primary amenorrhea, Intrauterine growth retardation, Central hypothyroidism, Severe... |
OMIM:614851 |
Acheiropody |
|
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... |
OMIM:200500 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... |
ORPHA:99429 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hypothyroidism, Osteopenia, Hyperinsulinemia, Delayed puberty, Micropen... |
ORPHA:3464 |
Pseudoachondroplasia |
|
Genu varum, Cone-shaped epiphysis, Scoliosis, Irregular carpal bones, Increased laxity of ankles,... |
ORPHA:750 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Hypoplastic vertebral bodies, Posta... |
OMIM:263540 |
Diethylstilbestrol Syndrome |
|
Epididymal cyst, Decreased fertility in females, Small for gestational age, Cryptorchidism, Micro... |
ORPHA:1916 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... |
OMIM:607078 |
Léri-Weill Dyschondrosteosis |
|
Genu varum, Abnormality of the ulna, Abnormal hip bone morphology, Clinodactyly of the 5th finger... |
ORPHA:240 |
Ovarian Dysgenesis 5 |
|
Short stature, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Spermatogenic Failure, X-Linked, 3 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... |
OMIM:301059 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619761 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... |
OMIM:619379 |
Opsismodysplasia |
|
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnormal... |
ORPHA:2746 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Erectile dysfunction, Dec... |
ORPHA:465508 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... |
OMIM:612447 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... |
OMIM:619585 |
Spastic Paraparesis And Deafness |
|
Short stature, Cataract, Hypogonadism |
OMIM:312910 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Male infertility, Abnormality of male internal genita... |
OMIM:261550 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... |
OMIM:618664 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Short femoral neck, Flared iliac wing, Rhizomelia, Flared humeral metaphysis, Flared ... |
OMIM:183849 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Amenorrhea, Microcornea, Highly arched eyebrow, Sparse pubic hair, Female... |
OMIM:110100 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Lumb... |
OMIM:609325 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... |
OMIM:226900 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Primary amenorrhea, Widened proximal ti... |
OMIM:609441 |
Opsismodysplasia |
|
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short palm, Hypoplastic vertebral bodies,... |
OMIM:258480 |
Partial Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... |
ORPHA:90797 |
Fibular Hemimelia |
|
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Short toe, Increased laxity of a... |
ORPHA:93323 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Bowing of the legs, Metaphyseal irregularity, Short neck, Vertebral compression fract... |
ORPHA:93352 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... |
OMIM:618643 |
Isochromosomy Yp |
|
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Kniest-Like Dysplasia, Lethal |
|
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... |
OMIM:245190 |
Aarskog-Scott Syndrome |
|
Widow's peak, Clinodactyly, Brachydactyly, Short palm, Cryptorchidism, Elevated circulating lutei... |
OMIM:305400 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:619102 |
Spastic Paraparesis-Deafness Syndrome |
|
Short stature, Cataract, Hypogonadism |
ORPHA:2815 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... |
OMIM:619177 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... |
OMIM:156500 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
Axial Spondylometaphyseal Dysplasia |
|
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... |
ORPHA:168549 |
Dysosteosclerosis |
|
Hypoplastic vertebral bodies, Platyspondyly, Abnormality of the metaphysis, Irregular vertebral e... |
ORPHA:1782 |
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 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Infantile Liver Failure Syndrome 3 |
|
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... |
OMIM:618641 |
Isochromosomy Yq |
|
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... |
ORPHA:98798 |
Functioning Gonadotropic Adenoma |
|
Infertility, Panhypopituitarism, Osteoporosis, Adrenocorticotropic hormone deficiency, Ovarian cy... |
ORPHA:91348 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:618670 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly |
OMIM:271620 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Radial bowing, Short tibia, Short forearm |
OMIM:127350 |
Dysosteosclerosis |
|
Narrow iliac wing, Absent paranasal sinuses, Progressive bowing of long bones, Hypoplastic verteb... |
OMIM:224300 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Short thumb |
OMIM:274205 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Brachydactyly, Hyperinsulinemia, Polycystic ovaries, Cryptorchidism, Abnormality of retinal pigme... |
ORPHA:3085 |
Androgen Insensitivity Syndrome |
|
Absent pubic hair, Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular n... |
ORPHA:754 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Absent eyelashes, Osteoporosis, Thin nail, Absent eyebrow, Nail dystrophy, Short ... |
OMIM:618625 |
Atelosteogenesis, Type I |
|
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... |
OMIM:108720 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... |
ORPHA:440354 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... |
ORPHA:174 |
Schneckenbecken Dysplasia |
|
Short neck, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Fibular hypoplas... |
ORPHA:3144 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... |
ORPHA:2916 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... |
OMIM:132400 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Ane Syndrome |
|
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... |
ORPHA:157954 |
Familial Male-Limited Precocious Puberty |
|
Abnormal hair morphology, Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infe... |
ORPHA:3000 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Short stature, Failure to thrive, Hyperpigmentation of the skin, Hypoplasia o... |
OMIM:619151 |
Hyperprolinemia, Type I |
|
Hyperactivity, Prolinuria, Ataxia, Hydroxyprolinuria, Hyperglycinuria |
OMIM:239500 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Fine hair,... |
OMIM:241080 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Xq27.3Q28 Duplication Syndrome |
|
Intrauterine growth retardation, Cryptorchidism, Sparse body hair, Truncal obesity, Failure to th... |
ORPHA:261483 |
Spermatogenic Failure 48 |
|
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619108 |
Metatropic Dysplasia |
|
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... |
OMIM:156530 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... |
ORPHA:93307 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Insulin resistance, Azoospermia, Obesity, Oligospermia, Type II diabetes mellitus |
OMIM:615703 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... |
ORPHA:1988 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Laurin-Sandrow Syndrome |
|
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Patellar aplasia, Broad foot,... |
OMIM:135750 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Abnormality of ulnar metaphysis, Hypopig... |
ORPHA:177910 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... |
OMIM:619217 |
Aromatase Deficiency |
|
Generalized hirsutism, Primary amenorrhea, Osteopenia, Delayed epiphyseal ossification, Insulin r... |
ORPHA:91 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Cataract, Failure to thrive, Scoliosis, Spasticity, Difficulty walking |
OMIM:617393 |
Metatropic Dysplasia |
|
Kyphosis, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Micromelia, Scol... |
ORPHA:2635 |
Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Short long bone, Short neck, Kyphosis, Sho... |
ORPHA:94068 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Genu varum, Clinodactyly, Vertebral hypoplasia, Hypoplastic iliac wing, Scoliosis, Vertebral fusi... |
ORPHA:93315 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... |
OMIM:201170 |
Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Short neck, Preaxial polydactyly, Mesomelic leg shortening, Oligod... |
ORPHA:2756 |
Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... |
OMIM:619095 |
46,Xy Sex Reversal 3 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... |
OMIM:612965 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus, Short stature |
OMIM:601076 |
Kennerknecht Syndrome |
|
Toe syndactyly, Toe clinodactyly, Long eyelashes, Short stature, Abdominal obesity, Hypoplasia of... |
OMIM:600908 |
Spermatogenic Failure 64 |
|
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility |
OMIM:619696 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum testosterone concentration, Decreased testicular size, Failure to thrive, Short s... |
OMIM:201100 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... |
ORPHA:1802 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short di... |
ORPHA:2163 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Primary amenorrhea, Delayed puberty, Cataract, Osteoporosis, Secondary growth hormone deficiency,... |
ORPHA:2410 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the vertebral column, Short femoral neck, Broad radial metaphysis, Wide distal fem... |
ORPHA:99642 |
Saccharopinuria |
|
Saccharopinuria, Hyperlysinuria, Spastic diplegia, Citrullinuria, Histidinuria |
OMIM:268700 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... |
ORPHA:3344 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Rhizomelic arm shortening, Sandal gap, Micrognathia, Micromelia, Ulnar deviati... |
ORPHA:56304 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619094 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... |
ORPHA:572333 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi, Juvenile cataract |
OMIM:617251 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Lower limb spasticity, Spastic paraplegia, Scoliosis, Gait distu... |
OMIM:611225 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Short femoral n... |
OMIM:601668 |
Tietz Syndrome |
|
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... |
ORPHA:79106 |
Atelosteogenesis Type Iii |
|
Coronal cleft vertebrae, Vertebral hypoplasia, Absent humerus, Absent radius, Micrognathia, Abnor... |
ORPHA:56305 |
Diaminopentanuria |
|
Spasticity, Cystinuria, Ataxia, Hyperlysinuria |
OMIM:222350 |
Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... |
OMIM:619528 |
Coffin-Siris Syndrome 9 |
|
Clinodactyly, Intrauterine growth retardation, Delayed puberty, Long eyelashes, Hypoplastic fifth... |
OMIM:615866 |
Smith-Mccort Dysplasia 2 |
|
Flattened epiphysis, Metaphyseal irregularity, Short neck, Short metacarpal, Pes planus, Hypoplas... |
OMIM:615222 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypoglycemia, Panhypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulat... |
ORPHA:226307 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Pla... |
OMIM:271650 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Rothmund-Thomson Syndrome, Type 2 |
|
Zonular cataract, Cryptorchidism, Osteoporosis, Short thumb, Small hand, Small for gestational ag... |
OMIM:268400 |
Caudal Regression Syndrome |
|
Missing ribs, Abnormality of pelvic girdle bone morphology, Hypoplastic vertebral bodies, Talipes... |
ORPHA:3027 |
46,Xy Sex Reversal 4 |
|
Hypoplastic labia majora, Elevated circulating creatinine concentration, Gonadal dysgenesis, Sex ... |
OMIM:154230 |
Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... |
ORPHA:168558 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Myotonic Dystrophy 2 |
|
Frontal balding, Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes ... |
OMIM:602668 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... |
ORPHA:289548 |
Tibial Hemimelia |
|
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hemivertebra... |
ORPHA:93322 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Rhizomelia, Dislocated radial head, Micro... |
ORPHA:166016 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... |
OMIM:602111 |
Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Short neck, Short femoral neck, Intervertebral space narrowing, Back pai... |
OMIM:271630 |
Greenberg Dysplasia |
|
Talipes, Hypoplastic vertebral bodies, 11 pairs of ribs, Micrognathia, Micromelia, Absent distal ... |
OMIM:215140 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Proximal tubulopathy, Gait ataxia, Aminoaciduria, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Cataract, Hyperactivity, Hirsutism |
ORPHA:85288 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... |
ORPHA:988 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Spars... |
OMIM:146110 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... |
OMIM:202010 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... |
OMIM:278850 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... |
OMIM:618745 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachydactyly, Neonatal epiphyseal stippling, Short palm, Hypoplastic vertebral bodies, Short met... |
OMIM:101800 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size |
OMIM:619145 |
Atelosteogenesis Type I |
|
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... |
ORPHA:1190 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Coronal cleft vertebrae, Genu varum, Abnormal ilium morpholo... |
ORPHA:93314 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Dibasic Amino Aciduria I |
|
Ornithinuria, Dibasicaminoaciduria, Argininuria, Hyperlysinuria |
OMIM:222690 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:85172 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Bifid femur, Foot monodactyly, Aplasia of the ulna, Split hand, Hand monodactyly |
OMIM:228250 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Spars... |
ORPHA:3044 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... |
ORPHA:314478 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... |
ORPHA:93316 |
Smith-Mccort Dysplasia 1 |
|
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... |
OMIM:607326 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... |
ORPHA:2632 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Brachydactyly, Abnormality of the nail, Abnormal hair morphology, Cataract... |
ORPHA:317 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... |
ORPHA:90794 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... |
ORPHA:166011 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Short femur, Amelia, Scoliosis |
OMIM:601357 |
Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Short neck, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, S... |
OMIM:228520 |
46,Xy Sex Reversal 7 |
|
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... |
OMIM:233420 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Pelviscapular Dysplasia |
|
Brachydactyly, Short neck, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip disloca... |
ORPHA:93333 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... |
OMIM:609813 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Infertility, Spastic gait, Kyphosis, Upper limb spasticity, Cataract, Upper limb dysmetria, Spast... |
OMIM:614409 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... |
ORPHA:90795 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... |
OMIM:184250 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Accumulation of melanosomes in melanocytes, Hemophagocytosis, Hypopigmentatio... |
OMIM:607624 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Halberd-shaped pelvis, Short neck, Delayed ossification of carpal bones, Irregular capital femora... |
OMIM:184252 |
Diastrophic Dysplasia |
|
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Kyphosis, Abnormal f... |
ORPHA:628 |
Mesomelic Dysplasia, Savarirayan Type |
|
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... |
ORPHA:85170 |
Pseudoachondroplasia |
|
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... |
OMIM:177170 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:98754 |
Classic Galactosemia |
|
Decreased fertility in females, Hypoglycemia, Primary amenorrhea, Cryptorchidism, Cataract, Osteo... |
ORPHA:79239 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Premature pubarche, Amenorrhea, Adrenal overactivity, Increased circulating androgen concentratio... |
OMIM:145295 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... |
ORPHA:79345 |
Gonadoblastoma |
|
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... |
ORPHA:206484 |
Leopard Syndrome 1 |
|
Cryptorchidism, Micropenis, Aplasia of the ovary, Short stature, Cafe-au-lait spot, Multiple lent... |
OMIM:151100 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Spastic tetraparesis, Ataxia, Aminoaciduria, Spasticity, Hemiplegia/hemiparesis, Ectopia lentis |
ORPHA:833 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Thanatophoric Dysplasia Type 1 |
|
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Femoral bowing, P... |
ORPHA:1860 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:98793 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism |
OMIM:616113 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coronal cleft vertebrae, Flattened epiphysis, Coxa valga, ... |
OMIM:618363 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Progressive spastic paraplegia, Male sexual dysfunction, Spastic gait, Lower limb spasticity, Uri... |
ORPHA:100999 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Generalized hyperpigmentation |
ORPHA:2253 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes, Infertility |
OMIM:136580 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:177904 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract, Growth delay, Short stature, Hypogonadism |
ORPHA:2528 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, Attention deficit hyperactivity disorder |
OMIM:204750 |
Valinemia |
|
Failure to thrive, Hyperkinetic movements, Valinuria |
OMIM:277100 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ovotestis, Chordee, Sclerocornea, Micropenis, Cataract, Hypospadias, Pigmentary retinopathy, Shor... |
OMIM:309801 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Absent tibia, Split hand, Short hallux, Aplasia/Hypoplasia of the ulna... |
OMIM:119100 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:177901 |
Metaphyseal Acroscyphodysplasia |
|
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... |
OMIM:250215 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... |
ORPHA:170 |
Non-Functioning Pituitary Adenoma |
|
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... |
ORPHA:91349 |
Renal Cysts And Diabetes Syndrome |
|
Epididymal cyst, Glycosuria, Elevated circulating creatinine concentration, Pancreatic hypoplasia... |
OMIM:137920 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract, Weight loss |
ORPHA:79238 |
Meningioma |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
ORPHA:2495 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Incoordination, Homocystinuria, Gait disturbance |
OMIM:236250 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Osteopenia, Amenorrhea, Menorrhagia, ... |
ORPHA:397685 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Aplasia/hypoplasia of the uterus, Short stature, Bicornuate uterus, Low posterior ha... |
ORPHA:2578 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Short... |
OMIM:608940 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... |
OMIM:300200 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Brachydactyly, Intrauterine growth retardation, Cryptorchidism, Short metacarpal, Cone... |
OMIM:614613 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Obesity, Hypoplasia of penis, Ty... |
ORPHA:791 |
47,Xyy Syndrome |
|
Impaired social interactions, Varicocele, Cryptorchidism, Increased serum testosterone level, Azo... |
ORPHA:8 |
Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
Hyperprolinemia, Type Ii |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:239510 |
Stuve-Wiedemann Syndrome 1 |
|
Talipes, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal ... |
OMIM:601559 |
Kyphomelic Dysplasia |
|
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Platyspondyly, Micromelia... |
OMIM:211350 |
Acheiropodia |
|
Absent radius, Abnormality of epiphysis morphology, Aplasia of the ulna, Fibular aplasia, Absent ... |
ORPHA:931 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level,... |
ORPHA:95699 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteoporosis |
OMIM:300604 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormality of the vertebral column, Dysmetria, Ataxia, Abnormal vertebral morphology, Aminoacidu... |
OMIM:250620 |
Acute Transverse Myelitis |
|
Priapism, Urinary retention, Abnormal libido, Back pain, Paraparesis, Upper motor neuron dysfunct... |
ORPHA:139417 |
Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:619755 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Platyspondyly, Acetabular dysplasia, Broad metac... |
ORPHA:79255 |
Brachydactyly, Type B1 |
|
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Type... |
OMIM:113000 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Moderately short stature, Cataract, Truncal obesity, Arachnodactyly, Pigmentary retinopathy, Hypo... |
OMIM:268050 |
Acromesomelic Dysplasia 2B |
|
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... |
OMIM:228900 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria, Episodic ataxia, Hypertonia |
OMIM:234500 |
Iminoglycinuria |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria |
OMIM:242600 |
Iminoglycinuria |
|
Prolinuria, Hydroxyprolinuria, Hyperglycinuria |
ORPHA:42062 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short ribs, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short tibia, Short humerus, Butterf... |
OMIM:607143 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract, Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Chordee, Cryptorchidism, Uterus didelphys, Astigmatism, Micropenis, Gray matter heterotopia, Gona... |
OMIM:618820 |
Testicular Agenesis |
|
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... |
ORPHA:325124 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Perineural Cyst |
|
Neurogenic claudication, Abnormal sacrum morphology, Abnormal thoracic spine morphology, Male sex... |
ORPHA:65250 |
Hyper-Beta-Alaninemia |
|
Failure to thrive, Increased urinary taurine |
OMIM:237400 |
Ivic Syndrome |
|
Absent thumb, Carpal synostosis, Hypoplasia of the ulna, Limited interphalangeal movement, Upper ... |
OMIM:147750 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Small for gestational age, Cataract, Failure to thrive, Spasticity, Kyphoscoliosis |
OMIM:212540 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Genu varum, Irregularity of vertebral bodies, Abnormal ilium morphology, Broad femoral neck, Enla... |
ORPHA:1159 |
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 |
Hypochondroplasia |
|
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... |
ORPHA:429 |
Osteomesopyknosis |
|
Infertility, Increased bone mineral density |
OMIM:166450 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... |
OMIM:617959 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Abnormal hair morphology, Aminoaciduria |
OMIM:242550 |
Prader-Willi-Like Syndrome |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:398073 |
Post-Traumatic Pituitary Deficiency |
|
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Osteopenia, Hypoglycemia,... |
ORPHA:95619 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... |
OMIM:618433 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Cone-shaped epiphysis, Short stature, Premature ov... |
ORPHA:3156 |
Glut1 Deficiency Syndrome 1 |
|
Paralysis, Choreoathetosis, Ataxia, Lethargy, Spasticity, Hemiparesis, Paroxysmal lethargy, Babin... |
OMIM:606777 |
Orofaciodigital Syndrome Iv |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... |
OMIM:258860 |
Alg9-Cdg |
|
Short long bone, Rhizomelia, Broad ischia, Abnormal bone ossification, Flared metaphysis, Hypopla... |
ORPHA:79328 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... |
ORPHA:85188 |
Kennedy Disease |
|
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Developmental cataract, Decreased body weight, Cataract, Short sta... |
OMIM:619420 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Intrauterine growth retardation, Long eyelashes, Mic... |
ORPHA:48431 |
Galactosemia I |
|
Cataract, Hypergonadotropic hypogonadism, Aminoaciduria, Failure to thrive, Increased level of ga... |
OMIM:230400 |
Cystinuria |
|
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... |
OMIM:220100 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... |
ORPHA:93284 |
Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Osteoporosis, Testicular atrophy, Impoten... |
OMIM:235200 |
Prader-Willi Syndrome |
|
Clinodactyly, Infertility, Primary amenorrhea, Acromicria, Failure to thrive in infancy, Cryptorc... |
OMIM:176270 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Clinodactyly, Cone-shaped epiphysis, Nail dysplasia, Oligospermia, Diabetes mellitus, Small hand,... |
OMIM:614813 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Cataract, Decreased serum testosterone concentration |
OMIM:609195 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... |
ORPHA:100 |
Glycine Encephalopathy |
|
Hyperactivity, Myoclonus, Hyperglycinuria, Lethargy |
OMIM:605899 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor |
OMIM:158580 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:812 |
Adenohypophysitis |
|
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... |
ORPHA:95512 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Elevated circulating follicle stimulating hormone level, Male hypogonadism... |
OMIM:240950 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Anauxetic Dysplasia 2 |
|
Brachydactyly, Ovoid vertebral bodies, Short neck, Hypoplasia of the femoral head, Thoracolumbar ... |
OMIM:617396 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intrauterine growth retardation, Micropenis, Short stature, Generalized hypopigmentation, Alopeci... |
OMIM:619321 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Subcapsular cataract, Polycystic ovaries, Insulin-resistant diabetes mellitus, Secondary amenorrh... |
OMIM:268020 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal pyramidal sign, Infertility, Abnormal sperm morphology, Upper limb spasticity, Spastic d... |
ORPHA:320391 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Osteoporosis, External g... |
ORPHA:398079 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis, Difficulty walking |
OMIM:617087 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Rhizomelia, Short metacarpal, Platyspondyly, Short humerus, Deformed humeral heads... |
OMIM:601438 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Paralysis, Elevated urinary delta-aminolevulinic acid, Respiratory paralysis |
OMIM:612740 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Panhypophysitis |
|
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... |
ORPHA:95513 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Short ... |
OMIM:304950 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Premature graying of hair, Azoospermia, Cataract, Short phalanx of finger, Hypergonadotropic hypo... |
OMIM:300845 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Brachydactyly, Small cervical vertebral bodies, Abnormal 5th metacarpal morphology, Cervical spin... |
ORPHA:397715 |
Polyembryoma |
|
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... |
ORPHA:180229 |
Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal vertebral morphology, Cutaneou... |
OMIM:601829 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
Epiphyseal Dysplasia, Baumann Type |
|
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... |
OMIM:610797 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Mucopolysaccharidosis, Type Iiid |
|
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Hypop... |
OMIM:252940 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pyramidal sign, Dysmetria, Intention tremor, Lower limb spasticity, Ataxia, Unsteady gai... |
ORPHA:98 |
Microcephaly-Micromelia Syndrome |
|
Short neck, Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial syno... |
OMIM:251230 |
Priapism, Familial Idiopathic |
|
Priapism |
OMIM:176620 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Short neck, Hypoplastic pelvis, Hypoplastic vertebral bodies |
OMIM:114620 |
Cofs Syndrome |
|
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Short stature, Ca... |
ORPHA:1466 |
Acrodysostosis With Multiple Hormone Resistance |
|
Brachydactyly, Hypoplastic vertebral bodies, Short metacarpal, Cone-shaped epiphysis, Short phala... |
ORPHA:280651 |
Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... |
ORPHA:1505 |
Sickle Cell Anemia |
|
Priapism, Hematuria, Renal insufficiency |
OMIM:603903 |
Galactosemia |
|
Decreased fertility, Primary amenorrhea, Cryptorchidism, Cataract, Secondary amenorrhea, Failure ... |
ORPHA:352 |
Mccune-Albright Syndrome |
|
Irregular menstruation, Fibrous dysplasia of the bones, Abnormality of the thyroid gland, Polyost... |
ORPHA:562 |
Gapo Syndrome |
|
Early balding, Abnormality of pelvic girdle bone morphology, Hypopigmented skin patches, Amenorrh... |
ORPHA:2067 |
Scorpion Envenomation |
|
Glycosuria, Priapism, Hemifacial spasm, Acute kidney injury, Ataxia, Ketonuria, Mydriasis, Hyperk... |
ORPHA:466677 |
Stimmler Syndrome |
|
Aminoaciduria, Ataxia |
ORPHA:3199 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Borjeson-Forssman-Lehmann Syndrome |
|
Abnormal hip bone morphology, Small scrotum, Cryptorchidism, Thick eyebrow, Cataract, Tapered fin... |
ORPHA:127 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Premature graying of hair, Delayed puberty, Azoospermia, Cataract, Hypergonadotropic hypogonadism... |
ORPHA:280679 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Nail dysplasia, Absent eyebrow, Trichodysplasia, Short stature, Diabetes mellitus, Nu... |
OMIM:601701 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... |
OMIM:113310 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:214450 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Hypoplastic vertebral bodies, Broad thumb |
OMIM:272200 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short neck, Short ribs, Decreased fibular diameter, Platyspondyly, Micrognathia, Flared metaphysi... |
OMIM:616897 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Choreoathetosis, Increased urinary sulfite, Ataxia, Fine hair, Decreased urinar... |
OMIM:272300 |
Laurence-Moon Syndrome |
|
Brachydactyly, Finger syndactyly, Cryptorchidism, Cataract, Obesity, Hypoplasia of penis, Hand po... |
ORPHA:2377 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Short stature, Opacifica... |
ORPHA:1643 |
Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Short 4th metacarpal, Obesity, Absen... |
ORPHA:2183 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Galactosemia Iii |
|
Aminoaciduria, Failure to thrive, Galactosuria |
OMIM:230350 |
Gm1-Gangliosidosis, Type I |
|
Kyphosis, Short neck, Hypoplastic vertebral bodies, Beaking of vertebral bodies, Scoliosis |
OMIM:230500 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... |
ORPHA:239 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Gait ataxia, Limb ataxia, Cataract, Spastic gait |
OMIM:617133 |
Prader-Willi Syndrome |
|
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... |
ORPHA:739 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Hypogonadotropic hypogonadism, Cryptorchidism, Cata... |
ORPHA:1387 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Progressive spastic paraplegia, Male sexual dysfunction, Spastic gait, Lower limb spasticity, Uri... |
ORPHA:100993 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... |
ORPHA:399805 |
1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Cataract, Failure to thrive, Hip dysplasia, Hypospadias, Hip dislocation |
ORPHA:250994 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Decreased body weight, Short palm, Cryptorchidism, Cataract, External genital hypoplasia, Short s... |
OMIM:612947 |
Hsd10 Disease |
|
Abnormal urinary acylglycine profile, Choreoathetosis, Spastic paraparesis, Elevated urinary 3-hy... |
ORPHA:391417 |
Shox-Related Short Stature |
|
Short neck, Ulnar radial head dislocation, Tibial bowing, Micrognathia, Scoliosis, Lower limb und... |
ORPHA:314795 |
Homocarnosinosis |
|
Carnosinuria, Spastic paraplegia |
OMIM:236130 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Apraxia, Ataxia, Lethargy, Spasticity, Hem... |
ORPHA:71277 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Hypoglycemia, Oligomenorrhea, Increased urinary cortisol level, Frontal balding, Dec... |
ORPHA:786 |
Camptodactyly-Taurinuria Syndrome |
|
Aminoaciduria, Increased urinary taurine |
ORPHA:1325 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal dystrophy, Long eyelashes, Cryptorchidism, Hypoplastic labia minora, Corneal opacity, Dec... |
ORPHA:495875 |
Cataract 17, Multiple Types |
|
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract |
OMIM:611544 |
Adult Krabbe Disease |
|
Tetraparesis, Frequent falls, Progressive spastic paraparesis, Erectile dysfunction, Hoffmann sig... |
ORPHA:206448 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Progressive spastic paraparesis, Hyperactivity, Gait disturbance, Para... |
ORPHA:43 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Abnormality of the ulna, ... |
ORPHA:2639 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly |
OMIM:612913 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Obesity, Osteoporo... |
OMIM:610628 |
Adrenoleukodystrophy |
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Incoordination, Hypogonadism, Urinary incontinence, Spastic paraplegia, Paraparesis, Truncal atax... |
OMIM:300100 |
Homozygous 11P15-P14 Deletion Syndrome |
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Generalized aminoaciduria, Failure to thrive, Renal tubular dysfunction |
OMIM:606528 |
3-Hydroxyisobutyric Aciduria |
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Aminoaciduria, Failure to thrive |
OMIM:236795 |
Bone Marrow Failure Syndrome 5 |
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Short stature, Hypogonadism, Testicular atrophy |
OMIM:618165 |
Spermatogenic Failure 53 |
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Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 31 |
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Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Scoliosis, Paralysis, Difficulty walking |
OMIM:605285 |
Spinocerebellar Ataxia Type 32 |
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Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
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Kyphosis, Obesity, Inability to walk, Ataxia, Lower limb spasticity, Lumbar hyperlordosis, Scolio... |
OMIM:616756 |
Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, ... |
OMIM:227270 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Hypogonadotropic hypogonadism, Developmental cataract, Primary amenorrhea, Microcornea, Split han... |
OMIM:604168 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Irregular epiphyses, Kyphosis, Short neck, Short femoral neck, Platyspondyly, Lumbar hyperlordosi... |
OMIM:313400 |
Hidrotic Ectodermal Dysplasia |
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Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... |
ORPHA:189 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Intrauterine growth retardation, Cryptorchidism, Short metacarpal, Cataract, Short thumb |
ORPHA:2489 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Short stature, Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
Dyggve-Melchior-Clausen Disease |
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Genu varum, Pes planus, Rhizomelic arm shortening, Clinodactyly of the 5th finger, Hypoplastic il... |
OMIM:223800 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Fragile nails |
ORPHA:254704 |
Atelosteogenesis, Type Iii |
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Cervical kyphosis, Short neck, Hitchhiker thumb, Rhizomelia, Sandal gap, Widened distal phalanges... |
OMIM:108721 |
Filippi Syndrome |
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Decreased body weight, Intrauterine growth retardation, Frontal hirsutism, Cryptorchidism, Cutane... |
OMIM:272440 |
Rabson-Mendenhall Syndrome |
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Hypothyroidism, Increased pineal volume, Onychauxis, Increased circulating androgen concentration... |
ORPHA:769 |
Werner Syndrome |
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Abnormal hair morphology, Cataract, Osteoporosis, Short stature, Diabetes mellitus, Hypogonadism |
OMIM:277700 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... |
OMIM:308990 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea |
OMIM:277000 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
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Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Pes planus, Dis... |
OMIM:618395 |
Threoninemia |
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Hyperthreoninuria |
OMIM:273770 |
Flynn-Aird Syndrome |
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Increased bone mineral density, Cataract, Increased bone density with cystic changes, Osteoporosi... |
OMIM:136300 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cryptorchidism, Cataract, Obesity, External genital hypoplasia, Hypogonadism |
ORPHA:363741 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Failure to thrive, Short stature, Mitochondrial hypertrophy, Female infertility, Premature ovaria... |
OMIM:619518 |
Popliteal Pterygium Syndrome |
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Intercrural pterygium, Hypoplastic labia majora, Small scrotum, Popliteal pterygium, Hypoplasia o... |
OMIM:119500 |
Solitary Bone Cyst |
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Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormality of the medullary ca... |
ORPHA:83468 |
Deafness-Infertility Syndrome |
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Azoospermia, Male infertility |
ORPHA:94064 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
Spermatogenic Failure, X-Linked, 2 |
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Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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