Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Impaired vibration sensation at ankles, Babinski sign, Infertility, Ce... |
ORPHA:320391 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 51 |
|
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... |
OMIM:619177 |
Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Cognitive impairment, Emotional lability, Anxiety, Depre... |
ORPHA:280397 |
Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Male infertility, Reduced progressiv... |
OMIM:619585 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism |
ORPHA:1180 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Premature ovarian insufficiency, Spasticity, Apraxia |
OMIM:615889 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Isochromosomy Yp |
|
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... |
ORPHA:98797 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... |
OMIM:615768 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Decreased testicular size, Non-obstructive a... |
OMIM:619528 |
Isochromosomy Yq |
|
Azoospermia, Varicocele, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia... |
ORPHA:98798 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... |
ORPHA:3000 |
Spermatogenic Failure 25 |
|
Azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia |
OMIM:619145 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Spermatogenic Failure 8 |
|
Oligospermia, Azoospermia, Cryptozoospermia |
OMIM:613957 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia |
OMIM:212840 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 24 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... |
OMIM:617959 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity, Hypergonadotropic hypogonadism |
OMIM:614307 |
Spermatogenic Failure 2 |
|
Oligospermia, Azoospermia |
OMIM:108420 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening, Ename... |
ORPHA:139474 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Dementia, Osteoporosis, Increased bone mineral densit... |
OMIM:136300 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... |
ORPHA:399808 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Mental Retardation, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... |
OMIM:261550 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
Morbid Obesity And Spermatogenic Failure |
|
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity |
OMIM:615703 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Gait disturbance, Decreased testicular size |
ORPHA:1875 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
47,Xyy Syndrome |
|
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Dysgenesis of the ... |
ORPHA:8 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Mental Retardation, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Thick vermili... |
ORPHA:1193 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Dystonia, Hypogonadism, Ataxia, Cerebellar hypoplasia |
OMIM:616113 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Lujan-Fryns Syndrome |
|
Macroorchidism, Micrognathia, High palate, Short philtrum, Abnormality of the dentition, Atrial s... |
ORPHA:776 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking |
OMIM:619425 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Fragile X Syndrome |
|
Mandibular prognathia, Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prol... |
OMIM:300624 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Classic Galactosemia |
|
Postural tremor, Secondary amenorrhea, Decreased fertility in females, Gait disturbance, Oligomen... |
ORPHA:79239 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Dental crowding |
OMIM:300143 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait... |
OMIM:617018 |
Megalencephaly |
|
Macroorchidism, Atrial septal defect, Long penis |
ORPHA:2477 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormal motor neuron morphology, Azoospermia, Torticollis, Intention tremor, Hypergonadotropic h... |
OMIM:613724 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Macroorchidism, Exaggerated median tongue furrow, Maxillary lateral in... |
OMIM:300602 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Thick lower lip vermilion, Macroorchidism |
OMIM:300238 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism, Premature ovarian insufficiency, Cryptorchidism... |
ORPHA:261483 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone mineral density |
ORPHA:3152 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... |
ORPHA:399805 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Smooth philtrum, Mitral valve prolapse, Mandibular prognathia, Cardiomegaly, Abno... |
ORPHA:324410 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets |
OMIM:241520 |
Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Macroorchidism, Exaggerated median tongue furrow, Maxillary lateral in... |
OMIM:300431 |
Huntington Disease-Like 2 |
|
Dementia, Weight loss, Apathy, Irritability, Anxiety, Depression |
OMIM:606438 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Parkinsonism, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Imp... |
OMIM:300623 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
4H Leukodystrophy |
|
Dystonia, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Abnormality of extrapyram... |
ORPHA:289494 |
Gabriele-De Vries Syndrome |
|
Tremor, Dystonia, Cryptorchidism, Waddling gait |
OMIM:617557 |
Fragile X Syndrome |
|
Sinusitis, Macroorchidism, Mitral valve prolapse, Mandibular prognathia |
ORPHA:908 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Dystonia, Gait disturbance, Impaired vibration sensation at ankles, Babinski sign, Pseudobulbar p... |
ORPHA:101006 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Dystonia, Babinski sign, Choreoathetosis, Obesity, Spastic gait, Shuffling gait, ... |
OMIM:300055 |
Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... |
OMIM:300200 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Galactosemia |
|
Postural tremor, Secondary amenorrhea, Lethargy, Gait disturbance, Oligomenorrhea, Decreased seru... |
ORPHA:352 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Kennedy Disease |
|
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ... |
ORPHA:481 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Tremor, Hypogonadism, Ataxia, Decreased serum testosterone concentration, Decr... |
OMIM:201100 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Dystonia, Cerebellar atrophy, Failure to thrive, Hypogonadotropic hypogonadism, Ataxia... |
OMIM:619310 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Dementia, Inappropriate behavior, Apathy, Frontotemporal dementia, Motor deterioration, Anxiety, ... |
ORPHA:412066 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Oligospermia, Cryptorchidism, Torticollis |
OMIM:314300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Fasciculations, Decreased fertility |
OMIM:313200 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Cerebellar atrophy, Frequent falls, Dilated fourth ventricle, Dysmetria, Chorea, Myoclo... |
ORPHA:251347 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteosclerosis |
OMIM:607634 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Everted lower lip vermilion |
ORPHA:85286 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Unsteady gait, Obesity, Distal sensory impairment, Premature ovarian insufficiency |
OMIM:618124 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias |
OMIM:241100 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Tremor, Hypogonadism, Micropenis, Cerebellar vermis atrophy, Hyperactivity, Abdomina... |
OMIM:300354 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogon... |
OMIM:607694 |
Lead Poisoning |
|
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Po... |
ORPHA:330015 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... |
ORPHA:99 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Premature Ovarian Failure 2B |
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Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Macroorchidism, Bilateral cleft lip and palate, High palate, Mitral valve prolapse, ... |
OMIM:618874 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Stereotypy, Tremor, Attention deficit hypera... |
ORPHA:10 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Boucher-Neuhauser Syndrome |
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Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... |
OMIM:215470 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... |
OMIM:619313 |
Spastic Paraplegia 46, Autosomal Recessive |
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Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Infertility, Knee clonus, Upper limb spa... |
OMIM:614409 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
Kallmann Syndrome |
|
Gait disturbance, Hypoplasia of penis, Abnormal morphology of female internal genitalia, Parapleg... |
ORPHA:478 |
Hemochromatosis, Type 2A |
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Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Lethargy |
OMIM:602390 |
Ovarian Dysgenesis 2 |
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Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Impaired proprioception, Type I diabetes mellitus, Cerebellar hypoplasia, Gait disturbance, Infer... |
ORPHA:412057 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Riboflavin Transporter Deficiency |
|
Cachexia, Diabetes insipidus, Myoclonus, Tremor, Ataxia, Hypogonadism |
ORPHA:97229 |
Pituitary Dermoid And Epidermoid Cysts |
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Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... |
ORPHA:91351 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
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Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Endosteal Hyperostosis, Autosomal Dominant |
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Hyperostosis, Thickened cortex of long bones, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Xp22.13P22.2 Duplication Syndrome |
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Mandibular prognathia, Macroorchidism, Polycystic ovaries, High palate |
ORPHA:284180 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
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Postural tremor, Dystonia, Clumsiness, Babinski sign, Impaired distal proprioception, Dysmetria, ... |
ORPHA:447896 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Hypogonadotropic hypogon... |
OMIM:235200 |
Myotonic Dystrophy 2 |
|
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... |
OMIM:602668 |
Isolated Anencephaly |
|
Cleft lip, Maternal diabetes, Thymus hyperplasia |
ORPHA:563609 |
46,Xy Partial Gonadal Dysgenesis |
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Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Ataxia-Telangiectasia |
|
Gait disturbance, Type II diabetes mellitus, Failure to thrive, Polycystic ovaries, Tremor, Abnor... |
ORPHA:100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Secondary amenorrhea, Impaired distal proprioception, Rigidity, Bradykinesia,... |
OMIM:157640 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Leukoencephalopathy With Vanishing White Matter |
|
Secondary amenorrhea, Gait disturbance, Primary amenorrhea, Premature ovarian insufficiency, Spas... |
OMIM:603896 |
Intellectual Developmental Disorder, X-Linked 12 |
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Gait disturbance, Small for gestational age, Increased body mass index, Truncal obesity, Tremor, ... |
OMIM:300957 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Mccune-Albright Syndrome |
|
Macroorchidism, Goiter, Hepatitis, Bone marrow hypocellularity, Hepatocellular adenoma, Pancreati... |
ORPHA:562 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity, Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tr... |
ORPHA:3077 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Dif... |
ORPHA:330050 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size |
OMIM:614897 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Pontocerebellar atrophy, Tremor, Ataxia, Oculomotor apraxia, Eyelid myoclonus, Incoordination, Ce... |
OMIM:618060 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Childhood Disintegrative Disorder |
|
Dementia, Social and occupational deterioration, Mental deterioration, Motor deterioration, Anxie... |
ORPHA:168782 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Ataxia, Hypergonadotropic hypogonadism |
ORPHA:88637 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... |
ORPHA:243 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Dystonia, Babinski sign, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Gait disturbance, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia, Type I diabetes melli... |
ORPHA:1192 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebellar atrophy, Stereotypy |
OMIM:617862 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Anemia of inadequate production, Macroorchidism, postpubertal, Adrenocorticotropi... |
ORPHA:91349 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o... |
ORPHA:79262 |
Ring Chromosome 21 Syndrome |
|
Gait disturbance, Infertility, Diabetes insipidus, Amenorrhea, Azoospermia, Spasticity |
ORPHA:1445 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Azoospermia |
ORPHA:2183 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Stereotypy, Tremor, Micropenis, Hy... |
ORPHA:457240 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hypoglycemia, Endometrial carcinoma, Female external genital... |
ORPHA:90790 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Gait disturbance, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Senior-Loken Syndrome |
|
Ataxia, Premature ovarian insufficiency |
ORPHA:3156 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Small for gestational age, Ab... |
ORPHA:1916 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Cach Syndrome |
|
Secondary amenorrhea, Abnormal pons morphology, Cerebellar atrophy, Dysmetria, Hemiparesis, Cereb... |
ORPHA:135 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, Ataxia, Dysdiadoc... |
OMIM:614381 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Polyembryoma |
|
Macroorchidism, Isosexual precocious puberty, Abnormality of the peritoneum |
ORPHA:180229 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:616187 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Br... |
OMIM:270500 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Gait disturbance, Truncal obesity, Premature ovarian insufficiency |
ORPHA:2928 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Hypoglycemia, Fasting hypoglycemia, Long penis, Mandibular prognathia, Insulin-resis... |
OMIM:262190 |
Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Vacuolated lymphocytes, Gingival overgrowth, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
Trisomy 20P |
|
Hypospadias, Macroorchidism, Micrognathia, Smooth philtrum, Abnormal palate morphology, Microdont... |
ORPHA:261318 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Oligospermia, Small for gestational age, Failure to thrive, Waddling gait, Diabetes mellitus, Cli... |
OMIM:614813 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Gait disturbance, Poor coordination, Abnormality of pain sensation, Tremor, Ataxia, ... |
ORPHA:544254 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Arthritis, Abnormal bone structure, O... |
ORPHA:1306 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... |
ORPHA:85450 |
Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... |
ORPHA:786 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l... |
OMIM:610245 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Trisomy X |
|
Tremor, Secondary amenorrhea, Attention deficit hyperactivity disorder |
ORPHA:3375 |
49,Xyyyy Syndrome |
|
Azoospermia, External genital hypoplasia, Eunuchoid habitus, Increased circulating gonadotropin l... |
ORPHA:99330 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia |
OMIM:617297 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Mulibrey Nanism |
|
Hepatomegaly, Hypodontia, Pericardial constriction, Hypoplastic frontal sinuses, Microglossia, Ca... |
OMIM:253250 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice |
ORPHA:858 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Insulin resistance, Ambiguous genitalia,... |
ORPHA:91 |
Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:102 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady gait, Limb... |
OMIM:213200 |
Behr Syndrome |
|
Progressive spasticity, Gait disturbance, Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Loss of ability to walk, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... |
ORPHA:98763 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, Pathologic frac... |
OMIM:259700 |
Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Endo... |
OMIM:212140 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Cachexia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... |
OMIM:618093 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Gait disturbance, Parkinsonism, Rigidity, Frequent falls, Chorea, Oromandibular dysto... |
ORPHA:216873 |
Spinocerebellar Ataxia Type 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Cerebell... |
ORPHA:458803 |
Dentin Dysplasia, Type I |
|
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... |
OMIM:125400 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Splenomegaly |
OMIM:615085 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Cerebellar cyst, Azoospermia |
OMIM:601076 |
Dentinogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... |
ORPHA:49042 |
Osteopetrosis, Autosomal Recessive 2 |
|
Thrombocytopenia, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomegaly,... |
OMIM:259710 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Macroglossia, Abnormal heart morphology, Hyperglycemia, Diabetic ketoacidosis,... |
ORPHA:99886 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Satoyoshi Syndrome |
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Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Cerebellar atrophy, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
Lethal Congenital Contracture Syndrome 10 |
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Micrognathia, High palate, Ventricular septal defect, Long philtrum, Hypoplasia of the thymus, Ca... |
OMIM:617022 |
Hypermanganesemia With Dystonia 2 |
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Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Albers-Schönberg Osteopetrosis |
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Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Recurrent... |
ORPHA:53 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Smooth philtrum, Cardiomegaly, Bilateral cryptorchidism, Downturned co... |
OMIM:618652 |
Multiple System Atrophy, Cerebellar Type |
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Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:227510 |
Ataxia-Telangiectasia |
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Dystonia, Choreoathetosis, Hypoplasia of the thymus, Myoclonus, Tremor, Ataxia, Abnormal spermato... |
OMIM:208900 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Dystonia, Myoclonus, Tremor, Hyperactivity, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
Gapo Syndrome |
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Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea |
ORPHA:2067 |
Spermatogenic Failure 28 |
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Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... |
OMIM:618086 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
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Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... |
OMIM:610185 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Multiple System Atrophy, Parkinsonian Type |
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Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Bradykinesia, Progressiv... |
ORPHA:98933 |
Spastic Ataxia 2, Autosomal Recessive |
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Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... |
OMIM:611302 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Macroorchidism, Goiter, Thyroid hypoplasia, Macroglossia, Pituitary hypothyroidism, Decreased thy... |
ORPHA:90674 |
Microphthalmia, Syndromic 9 |
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Micrognathia, Ventricular septal defect, Truncus arteriosus, Hypoplastic left atrium, Single vent... |
OMIM:601186 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Gait imbalance, Poor coordination, Truncal obesity, Hypogonadism, Vagin... |
OMIM:209900 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Spermatogenic Failure 4 |
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Recurrent spontaneous abortion, Azoospermia |
OMIM:270960 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Impaired proprioception, Aplasia/Hypoplasia of the cerebellum, Abnormal pyramidal sign, Abnormal ... |
ORPHA:99027 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Enamel hypoplasia, Cardiomegaly, Thin upper lip vermilion |
OMIM:613576 |
Osteopetrosis, Autosomal Recessive 4 |
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Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia, Recur... |
OMIM:611490 |
Perrault Syndrome 6 |
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Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Hepatomegaly, Hypodontia, Oligodontia, Abnormal dental enamel morphology, Splenomegaly, Cholestas... |
ORPHA:59303 |
Tetragametic Chimerism |
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Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
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Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Hy... |
ORPHA:465508 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Type II diabetes mellitus, Cholelithiasis, Tremor, Ataxia, Hypogonadism |
ORPHA:79095 |
Coenzyme Q10 Deficiency, Primary, 9 |
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Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation tes... |
ORPHA:280679 |
48,Xxxy Syndrome |
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Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Tremor, Hypogonadism, Attenti... |
ORPHA:96263 |
Tonne-Kalscheuer Syndrome |
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Hypospadias, Tremor, Micropenis, Broad-based gait, Spasticity, Cryptorchidism, Decreased testicul... |
OMIM:300978 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... |
ORPHA:79263 |
Premature Ovarian Failure 8 |
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Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Polyendocrine-Polyneuropathy Syndrome |
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Central hypothyroidism, Dystonia, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decre... |
ORPHA:453533 |
Wolfram Syndrome 1 |
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Testicular atrophy, Diabetes insipidus, Tremor, Ataxia, Diabetes mellitus, Hypothyroidism |
OMIM:222300 |
Spinocerebellar Ataxia 7 |
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Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Gaucher Disease Type 1 |
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Leukopenia, Anemia, Osteopenia, Pathologic fracture, Splenomegaly, Hypersplenism, Increased bone ... |
ORPHA:77259 |
Coenzyme Q10 Deficiency, Primary, 4 |
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Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
Premature Ovarian Failure 3 |
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Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Premature Ovarian Failure 5 |
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Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Mirage Syndrome |
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Hypospadias, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Throm... |
OMIM:617053 |
Developmental And Epileptic Encephalopathy 32 |
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Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Ovarian Dysgenesis 9 |
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Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... |
ORPHA:137898 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
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Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Dystonia 3, Torsion, X-Linked |
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Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
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Tremor, Dystonia, Myoclonus, Involuntary movements |
OMIM:611092 |
Diastrophic Dysplasia |
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Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
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Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
46,Xy Complete Gonadal Dysgenesis |
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Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... |
OMIM:615157 |
Myopathy, Mitochondrial, And Ataxia |
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Dysmetria, Tremor, Ataxia, Hyperthyroidism, Dysdiadochokinesis, Inability to walk, Primary amenor... |
OMIM:617675 |
Timothy Syndrome |
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Ventricular septal defect, Hypoglycemia, Microdontia, Cardiomegaly, Tetralogy of Fallot, Thin upp... |
OMIM:601005 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
Majeed Syndrome |
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Leukocytosis, Synovitis, Hypochromic microcytic anemia, Increased susceptibility to fractures, Co... |
ORPHA:77297 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... |
ORPHA:98760 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... |
OMIM:618723 |
Dysosteosclerosis |
|
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... |
OMIM:261640 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Distal sensory impairm... |
ORPHA:90117 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Aspartylglucosaminuria |
|
Carious teeth, Macroorchidism, Hepatomegaly, Macroglossia, Mandibular prognathia, Gingival overgr... |
ORPHA:93 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia |
OMIM:261630 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Proximal 16P11.2 Microduplication Syndrome |
|
Failure to thrive, Decreased body mass index, Tremor, Micropenis, Attention deficit hyperactivity... |
ORPHA:370079 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Focal dystonia, Br... |
ORPHA:240103 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Hyperactivity, Ataxia, Spasticity |
OMIM:300983 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Anemia |
OMIM:618838 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Br... |
OMIM:260300 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Bone-marrow foam cells, Cardiomyopathy, Splen... |
OMIM:256550 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Wide anterior fontanel, Increased bone mineral density, Delayed patel... |
ORPHA:163649 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly, Macrovesicular hepa... |
OMIM:600649 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Tremor, Hyperactivity, Hypogonadism, Broad-based gait, Obesity, Hypoplasia of penis, De... |
ORPHA:85293 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Open bite, Mandibular prognathia, Polycystic ovaries, Splenomegaly, Abnormali... |
ORPHA:2969 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking, Somatic sen... |
ORPHA:101077 |
Gracile Bone Dysplasia |
|
Micropenis, Ankyloglossia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Cognitive impairment, Irritability, Anhedon... |
ORPHA:96369 |
Woodhouse-Sakati Syndrome |
|
Dystonia, Streak ovary, Choreoathetosis, Insulin-resistant diabetes mellitus, Hypoplasia of the f... |
ORPHA:3464 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Acrofacial Dysostosis, Catania Type |
|
Hypospadias, Cryptorchidism, Carious teeth |
OMIM:101805 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... |
OMIM:617810 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Azoospermia, Small scrotum, Tremor, Hypogonadism, Attenti... |
ORPHA:96264 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... |
OMIM:302800 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Carney Complex |
|
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... |
ORPHA:1359 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Bloom Syndrome |
|
Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat... |
ORPHA:125 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Jaberi-Elahi Syndrome |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Tremor, Inability to... |
OMIM:617988 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... |
OMIM:617435 |
Dopa-Responsive Dystonia |
|
Gait disturbance, Dystonia, Arm dystonia, Rigidity, Poor coordination, Abnormality of extrapyrami... |
ORPHA:255 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly |
OMIM:252920 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... |
OMIM:602782 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Spasti... |
ORPHA:397946 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Paraplegia, Hemiparesis, Tremor, Ataxia, Impotence, Spasticity |
OMIM:105210 |
49,Xxxyy Syndrome |
|
Micrognathia, Mandibular prognathia, External genital hypoplasia, Increased circulating gonadotro... |
ORPHA:261534 |
Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... |
ORPHA:3095 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis, Writer's cramp |
OMIM:159900 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density |
OMIM:239000 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Dysmetria, Tremor, Progressive cerebellar ataxia, Hyperthyroidism, Dysdiadochokinesis, Primary am... |
ORPHA:502423 |
Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Babinski sign, Steppage gait, Tremor, Distal sensory impairment, Hypertonia, Spasticity |
OMIM:609260 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Poor motor coordination, Dilated fourth ventricle, Dysmetria, Tremor, Cerebel... |
ORPHA:1170 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... |
ORPHA:2791 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Tricho-Dento-Osseous Syndrome |
|
Periapical tooth abscess, Increased bone mineral density |
ORPHA:3352 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Gait disturbance, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, ... |
ORPHA:228360 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Cardiomegaly |
OMIM:618654 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Tremor, Ataxia, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attentio... |
OMIM:619556 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:101075 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Cholestasis, Pulmonic valve myxoma, Jaundice |
ORPHA:615 |
Tay-Sachs Disease |
|
Clumsiness, Gait disturbance, Dystonia, Cerebellar atrophy, Progressive spasticity, Frequent fall... |
ORPHA:845 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Gait disturbance, Dystonia, Parkinsonism, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |